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1.
Instr Course Lect ; 73: 487-496, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38090919

RESUMEN

Even under ideal circumstances, recurrence of infantile clubfoot deformity following the Ponseti method of treatment is to be expected to occur in as many as 20% of patients. When encountered early in childhood, these recurrences are usually amenable to further casting and limited surgery. Creation of a plantigrade foot, however, becomes much more challenging when recurrences present during adolescence and early adulthood. Because of the stiffer nature of these deformities in older patients, the fact that they are often more severe because of varying lengths of neglect, and the often deleterious effects of prior intra-articular surgeries on joint health, a principled approach is recommended for both the assessment of these feet and development of an appropriate treatment plan. In doing so, the surgeon can select the combination of nonsurgical and surgical interventions that allows for as little surgery as possible to create a plantigrade foot while maintaining any motion that is present before treatment. Although no single algorithmic approach can be applied to the variety of deformities and potentially complicating factors that are encountered in treating such patients, an understanding of the utility of preoperative casting, gradual and acute corrective techniques, and the importance of identifying and mitigating deforming forces and tendon imbalance can greatly optimize outcomes.


Asunto(s)
Pie Equinovaro , Procedimientos Ortopédicos , Humanos , Adolescente , Lactante , Adulto , Anciano , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Resultado del Tratamiento , Pie/cirugía , Procedimientos Ortopédicos/métodos , Tendones/cirugía , Moldes Quirúrgicos
2.
J Pediatr Orthop ; 43(5): 326-331, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36914260

RESUMEN

BACKGROUND: The Pirani scale is used for the assessment of Ponseti-managed clubfoot. Predicting outcomes using the total Pirani scale score has varied results, however, the prognostic value of midfoot and hindfoot components remains unknown. The purpose was to (1) determine the existence of subgroups of Ponseti-managed idiopathic clubfoot based on the trajectory of change in midfoot and hindfoot Pirani scale scores, (2) identify time points, at which subgroups can be distinguished, and (3) determine whether subgroups are associated with the number of casts required for correction and need for Achilles tenotomy. METHODS: Medical records of 226 children with 335 idiopathic clubfeet, over a 12-year period, were reviewed. Group-based trajectory modeling of the Pirani scale midfoot score and hindfoot score identified subgroups of clubfoot that followed statistically distinct patterns of change during initial Ponseti management. Generalized estimating equations determined the time point, at which subgroups could be distinguished. Comparisons between groups were determined using the Kruskal-Wallis test for the number of casts required for correction and binary logistic regression analysis for the need for tenotomy. RESULTS: Four subgroups were identified based on the rate of midfoot-hindfoot change: (1) fast-steady (61%), (2) steady-steady (19%), (3) fast-nil (7%), and (4) steady-nil (14%). The fast-steady subgroup can be distinguished at the removal of the second cast and all other subgroups can be distinguished at the removal of the fourth cast [ H (3) = 228.76, P < 0.001]. There was a significant statistical, not clinical, difference in the total number of casts required for correction across the 4 subgroups [median number of casts 5 to 6 in all groups, H (3) = 43.82, P < 0.001]. Need for tenotomy was significantly less in the fast-steady (51%) subgroup compared with the steady-steady (80%) subgroup [ H (1) = 16.23, P < 0.001]; tenotomy rates did not differ between the fast-nil (91%) and steady-nil (100%) subgroups [ H (1) = 4.13, P = 0.04]. CONCLUSIONS: Four distinct subgroups of idiopathic clubfoot were identified. Tenotomy rate differs between the subgroups highlighting the clinical benefit of subgrouping to predict outcomes in Ponseti-managed idiopathic clubfoot. LEVEL OF EVIDENCE: Level II, prognostic.


Asunto(s)
Pie Equinovaro , Niño , Humanos , Lactante , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Resultado del Tratamiento , Moldes Quirúrgicos , Pie , Tenotomía/métodos
3.
BMC Musculoskelet Disord ; 23(1): 506, 2022 May 28.
Artículo en Inglés | MEDLINE | ID: mdl-35624496

RESUMEN

BACKGROUND: The Ponseti method is the gold standard for clubfoot treatment. However, relapse and residual gait deviations are common, and follow-up until 7 years of age is recommended. We evaluated the reliability of the foot drawing method, a new instrument for the follow-up of clubfoot. The method uses drawings of the foot in the neutral position and external rotation to measure foot length and outward rotation. METHODS: Nineteen children aged 2.5-7 years who were treated with the Ponseti method for congenital clubfoot were included. Two raters made the drawings twice (D1 and D2). Each rater measured foot length, foot rotation, and foot-tibial rotation independently (D1). Later, the raters repeated the measurements (D2). Interrater reliability was assessed using the D1 from each rater. Intrarater reliability was assessed using the measurements from each rater's D1 and D2. Bland-Altman plots were used to visualize the limits of agreement (LoA). The mean, 95% confidence interval, and one standard deviation of the differences in all measurements were calculated. RESULTS: The mean differences between and within raters were: foot length < 1 mm, foot rotation < 1°, and foot-tibia rotation < 2°, which indicated no systematic differences. The LoA for foot length were: 4.5 mm and 5.9 mm between raters for D1, - 4.8 mm and 5.9 mm for rater 1 (D1-D2), and - 5.1 mm and 5 mm for rater 2 (D1-D2). The LoA for foot rotation: were - 12° and 10.6° between raters (D1), - 8.4° and 6.6° for rater 1 (D1-D2), and - 14° and 14.1° for rater 2 (D1-D2). The LoA for foot-tibia rotation were: - 17.8° and 14.3° between raters (D1), - 12° and 12.2° for rater 1 (D1-D2), and - 12.7° and 13.6° for rater 2 (D1- D2). CONCLUSIONS: The absence of systematic differences between and within raters, and LoA observed indicate that the foot drawing method is applicable in clinical practice and research. However, the results of the foot and foot-tibia rotation analyses imply that caution is needed when interpreting changes in foot rotation in feet with higher degrees of rotation.


Asunto(s)
Pie Equinovaro , Niño , Pie Equinovaro/diagnóstico , Pie , Marcha , Humanos , Reproducibilidad de los Resultados
4.
BMC Musculoskelet Disord ; 23(1): 88, 2022 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-35081931

RESUMEN

OBJECTIVES: We retrospectively investigated the clinical materials to seek the factors that lead to relapse after using the Ponseti method. METHODS: We retrospectively reviewed all children with congenital clubfoot treated with the Ponseti method in our hospital from June 2008 to June 2013. The data included the following factors: age, gender, initial Pinari score, number of casts, number of feet (unilateral or bilateral), age at the first casting, age of mother, tenotomy, walking age, and compliance with using bracing. All investigations were conducted in conformity with ethical standards. This study was approved by Guilin Peoples' Hospital Ethics Committee. RESULTS: In this study, there were 148 cases (164 ft) in total that underwent the Ponseti method, with the follow-up period at least 5 years. Of them, 64 children presented with left side, 58 with right side, and 26 with bilateral cases. This study included 75 males and 73 females; sex did not affect the outcomes. The mean age of the first casting was 2.50 ± 2.15 months. The average initial Pirani score was 4.98 ± 1.33, and the average number of casts was 5.71 ± 2.28 times. The mean age of mothers at birth was 25.81 ± 2.38 years old. The walking age of children was at a mean of 14.83 ± 1.18 months. Forty-nine cases could not tolerate using braces, namely the rate of noncompliance in this study was 33.1%. Tenotomy was performed on 113 ft (76.4%). The average follow-up period was 7.27 ± 1.29 years (from 5 to 10 years). The rate of relapse was 21.6% (32 cases) at the end of the follow-up. The rate of relapse in the noncompliance with using bracing group was significantly higher compared to the compliance group . CONCLUSION: The initial Pirani score, compliance with the foot abduction brace and the age at the first casting are three independent factors for relapse in clubfoot.


Asunto(s)
Pie Equinovaro , Adulto , Tirantes , Moldes Quirúrgicos , Niño , Pie Equinovaro/diagnóstico , Pie Equinovaro/terapia , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Recurrencia , Estudios Retrospectivos , Tenotomía , Resultado del Tratamiento , Adulto Joven
5.
Int Orthop ; 46(1): 125-132, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34173015

RESUMEN

PURPOSE: To evaluate the outcomes of Ilizarov external fixator (IEF) and minimal invasive surgery (MIS) in correction of neglected club foot (NCF). METHODS: Thirty-seven feet in 24 child, between five and 15 years old were diagnosed as NCF. All were treated with Achilles tendon lengthening (ATL) and IEF for gradual correction. After IEF removal, cast was applied for six weeks to maintain correction of the deformity. RESULTS: There were 20 boys and four girls. Seven children had left (Lt), four children had right (Rt) while 13 children had bilateral foot deformity. The mean age at surgery was 10.3 (range 5-15) years with an average follow-up of 32.5 (range 24-96) months. All feet were graded as severe according to Pirani score. All feet were corrected after an average six weeks in IEF. After two years follow-up, 23 feet (16 patients) showed good results, five feet (3 patients) showed fair results and four feet (2 patients) had Rt side foot fair result while the Lt foot had good result in both patients. Five feet (3 patients) showed poor results. Eight patients had pin site infection. One case had infected skin and subcutaneous tissue and needed debridement. Two cases developed skin sloughing, changes in color and needed close follow-up. CONCLUSION: We recommend combined IEF and MIS as a suitable, efficient and successful salvage procedure in the management of severe idiopathic NCF in children especially in developing countries.


Asunto(s)
Pie Equinovaro , Técnica de Ilizarov , Adolescente , Niño , Preescolar , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Fijadores Externos , Femenino , Pie , Humanos , Lactante , Masculino , Resultado del Tratamiento
6.
Am J Med Genet A ; 185(3): 945-948, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33369052

RESUMEN

Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.


Asunto(s)
Anomalías Múltiples/genética , Aracnodactilia/genética , Blefarofimosis/genética , Enfermedades del Tejido Conjuntivo/genética , Contractura/genética , Canales Iónicos/genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Adulto , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Agenesia del Cuerpo Calloso/genética , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Aracnodactilia/diagnóstico por imagen , Aracnodactilia/embriología , Blefarofimosis/diagnóstico por imagen , Blefarofimosis/embriología , Niño , Pie Equinovaro/diagnóstico , Pie Equinovaro/embriología , Pie Equinovaro/genética , Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Enfermedades del Tejido Conjuntivo/embriología , Consanguinidad , Contractura/diagnóstico por imagen , Contractura/embriología , Síndrome de Dandy-Walker/diagnóstico por imagen , Síndrome de Dandy-Walker/embriología , Síndrome de Dandy-Walker/genética , Femenino , Estudios de Asociación Genética , Humanos , Discapacidad Intelectual/genética , Canales Iónicos/deficiencia , Masculino , Linaje , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Ultrasonografía Prenatal
7.
Curr Opin Pediatr ; 32(1): 100-106, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31815780

RESUMEN

PURPOSE OF REVIEW: This review aims to provide primary care physicians with updates on recent literature regarding clubfoot and answer questions asked by parents and caregivers of children with clubfoot. The topics discussed include prenatal counseling, relapse after Ponseti treatment, long-term outcomes following successful treatment of clubfoot, and the effect of diagnosis and treatment on the parent or caregiver. RECENT FINDINGS: Clubfoot is one of the most commonly searched orthopaedic conditions on the internet by parents. There is a lack of evidence-based guidelines on clubfoot worldwide. Recent systematic reviews have identified emerging evidence of genetic and modifiable risk factors that lead to clubfoot. Patients treated by the Ponseti method show better ankle power and strength compared with those treated with surgery for residual deformity or recurrence. SUMMARY: The treatment of clubfoot is a long and involved process. Exposure to and familiarity with the Ponseti method will aid primary care physicians and parents in the optimization of children's clubfoot deformity correction using largely nonoperative management.


Asunto(s)
Pie Equinovaro/terapia , Procedimientos Ortopédicos/métodos , Atención Primaria de Salud , Actitud Frente a la Salud , Cuidadores/psicología , Moldes Quirúrgicos , Niño , Pie Equinovaro/clasificación , Pie Equinovaro/diagnóstico , Pie Equinovaro/etiología , Humanos , Procedimientos Ortopédicos/psicología , Padres/psicología , Recurrencia , Factores de Riesgo , Resultado del Tratamiento
8.
J Pediatr Orthop ; 40(8): 418-424, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32205682

RESUMEN

BACKGROUND: We aimed to evaluate the effect of tibialis anterior tendon transfer (TATT) on foot motion in children with clubfoot recurrence after initial Ponseti treatment. METHODS: Children with dynamic clubfoot recurrence after initial Ponseti treatment who underwent TATT between 2014 and 2017 were considered for inclusion. Exclusion criteria were neurological disease, split transfer of the tendon, additional bone or joint invasive surgery, and initial treatment abroad. Of 94 children (143 TATT), 36 met the inclusion criteria. Seventeen (47%) of the 36 children with 25 clubfeet and a mean age at the time of surgery of 6.8 years participated in the study. Gait analysis, including the Oxford foot model, was conducted preoperatively and postoperatively. Furthermore, kinematic and kinetic data were compared with those of age-matched healthy children (n=18). RESULTS: Forefoot supination in relation to the hindfoot and tibia was reduced during swing and at initial contact after TATT compared with preoperative values. Forefoot supination in relation to the tibia at initial contact decreased from 12.4 to 5.2 degrees after TATT (control group, 6.0 degrees). The heel showed less dynamic varus and adduction movement after TATT compared with preoperatively. Maximum ankle power was reduced preoperatively and postoperatively compared with controls. Maximum ankle dorsiflexion slightly increased after TATT. CONCLUSIONS: Gait analysis showed normalization of the main components of dynamic clubfoot recurrence after TATT. This joint-sparing surgery efficiently corrects recurrent dynamic deformity. LEVEL OF EVIDENCE: Level II-therapeutic.


Asunto(s)
Pie Equinovaro , Ortesis del Pié , Prevención Secundaria , Supinación/fisiología , Transferencia Tendinosa , Fenómenos Biomecánicos , Niño , Preescolar , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Femenino , Pie/fisiopatología , Análisis de la Marcha , Humanos , Masculino , Evaluación de Resultado en la Atención de Salud/métodos , Prevención Secundaria/instrumentación , Prevención Secundaria/métodos , Transferencia Tendinosa/efectos adversos , Transferencia Tendinosa/métodos
9.
J Foot Ankle Surg ; 59(2): 314-322, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32130997

RESUMEN

The Ponseti technique is successful in idiopathic clubfoot management. However, the leading cause of relapse and recurrence is nonadherence to the Denis Brown bracing protocol. This necessitates more extensive soft tissue surgeries. Based on a detailed up-to-date search, we have found that no other studies provide such a modified Ponseti technique. This study is unique, as it depends on using specific stretching exercises instead of bracing during management. Between August 2009 and June 2019, a consecutive series of 194 isolated idiopathic clubfoot patients (251 feet) were included in this study. The mean follow-up was 93 months (range 72 to 146), mean 91.8 months. All patients underwent a clinical and functional assessment using the Laaveg-Ponseti score and radiological assessments. There were 132 boys (68.1%) and 62 girls (31.9%), a male-to-female ratio of 2:1. The mean age at initiation of treatment was 14.9 days. According to the Laaveg-Ponseti score, 51.7% yielded excellent results, 35.3% yielded good results, 11.55% yielded fair results, and 1.59% yielded poor results. Bracing noncompliance has been identified as a major cause for treatment failure. This presented exercise protocol not only eliminates the need for bracing and reduces the cost for the affected individuals but also provides excellent clinical and radiographic end results, comparable to the original treatment protocol using the Denis Brown brace.


Asunto(s)
Pie Equinovaro/terapia , Terapia por Ejercicio/métodos , Ejercicio Físico/fisiología , Manipulación Ortopédica/métodos , Procedimientos de Cirugía Plástica/métodos , Férulas (Fijadores) , Tenotomía/métodos , Moldes Quirúrgicos , Preescolar , Pie Equinovaro/diagnóstico , Pie Equinovaro/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Cooperación del Paciente , Estudios Prospectivos , Recurrencia , Factores de Tiempo
10.
J Foot Ankle Surg ; 59(2): 418-422, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32131014

RESUMEN

Treatment of persistent or recurrent equinus after repeated surgical releases can be challenging in patients with clubfoot. Anterior distal tibial epiphysiodesis has recently been used in patients with recurrent progressive equinus deformity, with inconsistent outcomes. Herein, we used this technique in a carefully selected subgroup (8 children, 9 feet) of patients with a severe equinus deformity and a flat-top talus. The patients were followed up with radiological and clinical measures for 12 to 18 months. The mean angle of the ankle improved significantly (25.5°, p < .0001). The mean anterior distal tibial angle decreased from 86.3° to 69° (p < .0001). Plantigrade foot was obtained in all patients, except 1 with arthrogryposis. When applied to carefully selected patients, anterior distal hemiepiphysiodesis of the tibia is an effective method for management of recurrent equinus deformity.


Asunto(s)
Articulación del Tobillo/cirugía , Pie Equinovaro/cirugía , Pie Equino/cirugía , Astrágalo/cirugía , Articulación del Tobillo/diagnóstico por imagen , Niño , Preescolar , Pie Equinovaro/diagnóstico , Pie Equino/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Radiografía , Estudios Retrospectivos , Astrágalo/diagnóstico por imagen
11.
Am J Med Genet A ; 179(4): 595-601, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30740879

RESUMEN

We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995-2011. Cases without chromosomal anomalies born during 2005-2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10-1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05-1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90-0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population-based study found a decreasing trend of congenital clubfoot in Europe after 1999-2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.


Asunto(s)
Aberraciones Cromosómicas , Pie Equinovaro/epidemiología , Anomalías Congénitas/epidemiología , Muerte Fetal , Diagnóstico Prenatal , Mortinato/epidemiología , Pie Equinovaro/diagnóstico , Anomalías Congénitas/diagnóstico , Europa (Continente)/epidemiología , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Prevalencia , Sistema de Registros
13.
J Pediatr Orthop ; 39(5): e402-e405, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30608304

RESUMEN

BACKGROUND: The Dimeglio score (DS) is widely used to assess clubfoot severity, but its ability to predict long-term outcomes following Ponseti treated isolated clubfoot (IC) is controversial. This study tested the association between the initial DS and its individual parameters with the number of Ponseti clubfoot casts required to achieve correction and the rate of early recurrence following treatment. METHODS: Data were retrospectively collected from patients who underwent treatment of IC between March 2012 and March 2015 and were followed for ≥2 years. DSs were collected at the initial casting visit. The number of Ponseti casts required to achieve clubfoot correction before tenotomy and recurrence of deformity were collected as the primary outcome variables. Recurrence was defined as any loss of correction leading to repeat casting or tenotomy during the bracing phase. Negative binomial and logistic regression analyses were used to test the association between the 8 Dimeglio parameters and number of casts and incidence of recurrence, respectively. RESULTS: A total of 53 patients (37 male and 16 female) were included in the study. The median number of casts required to achieve an acceptable correction was 5 (range, 2 to 16). The incidence of recurrence was 24.53% (13/53). An increase in derotation, varus, equinus, muscle condition, and total DSs at the initial cast visit were associated with a significant (P<0.05) increase in the number of casts required to achieve an acceptable correction. The derotation parameter [rate ratio: 1.30, 95% confidence interval (CI): 1.13-1.50, P=0.0003] was most strongly associated with number of casts. Total DSs at initial visit was the only variable significantly associated with the incidence of deformity recurrence (odds ratio: 1.36, 95% confidence interval: 1.01-1.84, P=0.0482). CONCLUSION: Initial DS is correlated with the number of casts required for correction in Ponseti treated IC. DS may help physicians establish realistic expectations for families with regard to the length of treatment and the possibility of recurrence following Ponseti treatment. LEVEL OF EVIDENCE: Level II-retrospective prognostic study.


Asunto(s)
Moldes Quirúrgicos , Pie Equinovaro , Manipulación Ortopédica/métodos , Índice de Severidad de la Enfermedad , Adolescente , Adulto , Niño , Pie Equinovaro/diagnóstico , Pie Equinovaro/terapia , Femenino , Humanos , Masculino , Oportunidad Relativa , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Adulto Joven
14.
Am J Med Genet A ; 176(12): 2911-2914, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30450804

RESUMEN

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) is a rare X-linked condition. As more patients are identified through genetic testing, it is increasingly clear that the original TARP acronym does not fully describe the complete phenotypic spectrum of this syndrome. The presented patient had genetically confirmed TARP syndrome and demonstrated new findings of hydronephrosis and hemodynamically significant hypertrophic obstructive cardiomyopathy. The patient also had physical findings common with previously reported individuals with TARP syndrome in the literature but not described by the TARP acronym. These features include central nervous system dysfunction, renal abnormalities, cardiac lesions other than atrial septal defect or persistent left superior vena cava, and distal limb defects other than talipes equinovarus. By adding to the known spectrum of the TARP phenotype, this report will aid clinicians as they care for patients with this rare condition.


Asunto(s)
Pie Equinovaro/diagnóstico , Pie Equinovaro/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Causas de Muerte , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Mutación , Fenotipo , Pronóstico , Proteínas de Unión al ARN/genética
15.
Am J Med Genet A ; 176(12): 2915-2918, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30462380

RESUMEN

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X-linked syndrome often resulting in pre- or post-natal lethality in affected males. In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA RBM10 mutation in exon 4, an exon skipped in three of five protein-coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.


Asunto(s)
Pie Equinovaro/diagnóstico , Pie Equinovaro/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Adulto , Pie Equinovaro/terapia , Análisis Mutacional de ADN , Facies , Estudios de Asociación Genética/métodos , Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/terapia , Humanos , Mutación con Pérdida de Función , Masculino , Sistemas de Lectura Abierta , Linaje , Fenotipo , Síndrome de Pierre Robin/terapia , Proteínas de Unión al ARN/genética
16.
BMC Musculoskelet Disord ; 19(1): 450, 2018 Dec 22.
Artículo en Inglés | MEDLINE | ID: mdl-30579347

RESUMEN

BACKGROUND: There are various established scoring systems to assess the outcome of clubfoot treatment after correction with the Ponseti method. We used five measures to compare the results in a cohort of children followed up for between 3.5 to 5 years. METHODS: In January 2017 two experienced physiotherapists assessed children who had started treatment between 2011 and 2013 in one clinic in Harare, Zimbabwe. The length of time in treatment was documented. The Roye score, Bangla clubfoot assessment tool, the Assessing Clubfoot Treatment (ACT) tool, proportion of relapsed and of plantigrade feet were used to assess the outcome of treatment in the cohort. Inter-observer variation was calculated for the two physiotherapists. A comparative analysis of the entire cohort, the children who had completed casting and the children who completed more than two years of bracing was undertaken. Diagnostic accuracy was calculated for the five measures and compared to full clinical assessment (gold standard) and whether referral for further intervention was required for re-casting or surgical review. RESULTS: 31% (68/218) of the cohort attended for examination and were assessed. Of the children who were assessed, 24 (35%) had attended clinic reviews for 4-5 years, and 30 (44%) for less than 2 years. There was good inter-observer agreement between the two expert physiotherapists on all assessment tools. Overall success of treatment varied between 56 and 93% using the different outcome measures. The relapse assessment had the highest unnecessary referrals (19.1%), and the Roye score the highest proportion of missed referrals (22.7%). The ACT and Bangla score missed the fewest number of referrals (7.4%). The Bangla score demonstrated 79.2% (95%CI: 57.8-92.9%) sensitivity and 79.5% (95%CI: 64.7-90.2%) specificity and the ACT score had 79.2% (95%CI: 57.8-92.9%) sensitivity and 100% (95%CI: 92-100%) specificity in predicting the need for referral. CONCLUSION: At three to five years of follow up, the Ponseti method has a good success rate that improves if the child has completed casting and at least two years of bracing. The ACT score demonstrates good diagnostic accuracy for the need for referral for further intervention (specialist opinion or further casting). All tools demonstrated good reliability.


Asunto(s)
Pie Equinovaro/terapia , Procedimientos Ortopédicos/métodos , Encuestas y Cuestionarios , Factores de Edad , Pie Equinovaro/diagnóstico , Pie Equinovaro/fisiopatología , Femenino , Humanos , Masculino , Variaciones Dependientes del Observador , Procedimientos Ortopédicos/efectos adversos , Fisioterapeutas , Valor Predictivo de las Pruebas , Recuperación de la Función , Recurrencia , Reproducibilidad de los Resultados , Retratamiento , Factores de Tiempo , Resultado del Tratamiento , Zimbabwe
17.
J Pediatr Orthop ; 38(5): e271-e277, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29635261

RESUMEN

BACKGROUND: Residual equinus deformity is present in up to 20% of clubfeet treated by the Ponseti method. These patients may require surgical release to restore dorsiflexion. Despite complete posterior release; persistent intraoperative equinus may be present and suggest concurrent joint incongruity. The purpose of this study was to characterize differences in ankle morphology in toddlers with residual equinus following the Ponseti method. METHODS: Preoperative magnetic resonance imaging (MRI) data from 10 patients who underwent reconstruction (17 feet; 7 bilateral, 3 unilateral clubfeet) for persistent equinus were compared with 16 age-matched controls. Through reverse engineering software, MRI data were used to generate 3-dimensional (3D) models. Four talus-based measures were performed on both MRI data and 3D models-neck depth, neck angle, width, and length. Models were also used to calculate talus volume and arc of curvature (plafond and talar dome). Standard statistical analyses were performed. RESULTS: Talus volumes, width, and length were less in clubfeet then in control feet. Although some measures were significant there was no mismatch with the ankle mortise dimensions or arc curvature that could account for any decrease in dorsiflexion. We found that from MRI measures the clubfoot neck depth was 2.3 versus 3.6 mm in controls (P<0.001) and from 3D modeling the clubfoot neck depth was 2.3 and 3.5 mm in controls (P=0.003). With 3D modeling talus clubfoot neck angle was 153.7 versus 140.4 degrees in controls (P=0.01). The clubfoot neck angle obtained from MRI measures were also different yet not significant [126.6 in clubfeet versus 122.5 degrees in controls (P=0.12)]. CONCLUSIONS: In comparison to age-matched feet; we have noted a decrease in talar neck depth and an obtuse talar neck angle in clubfeet treated in the manner of Ponseti. This may result in anterior ankle impingement and be the cause of residual equinus despite posterior release. In these procedures, the surgeon should recognize this possibility when the amount of dorsiflexion is less than expected. LEVEL OF EVIDENCE: Level III-case control study.


Asunto(s)
Moldes Quirúrgicos , Pie Equinovaro , Pie Equino , Procedimientos Ortopédicos , Articulación del Tobillo/diagnóstico por imagen , Articulación del Tobillo/cirugía , Estudios de Casos y Controles , Preescolar , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Pie Equino/diagnóstico , Pie Equino/etiología , Pie Equino/cirugía , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Procedimientos Ortopédicos/efectos adversos , Procedimientos Ortopédicos/instrumentación , Procedimientos Ortopédicos/métodos , Resultado del Tratamiento
18.
Int Orthop ; 42(10): 2429-2436, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29594373

RESUMEN

PURPOSE: The Dimeglio and the Pirani scores are largely used to rate clubfoot at presentation and monitor correction. To date, the accuracy of these scores in predicting appropriate treatment is controversial. The aim of this study was to investigate the accuracy of Dimeglio and Pirani scores in predicting the number of casts and the need for tenotomy in clubfoot correction using the Ponseti method. METHODS: Ninety-one consecutive feet (54 patients; mean age at presentation: 28 ± 15 days) undergoing clubfoot correction using the Ponseti method were prospectively followed from first casting to correction. All feet were scored according to the Dimeglio and Pirani score. The relationships between the two scores, the number of casts and the need for tenotomy were analysed. RESULTS: Initial correction was achieved in all feet. Both Dimeglio (r = .73; p value < .0005) and Pirani scores (r = .56; p value < .000) showed good association with the number of casts. Multiple linear regression showed a high collinearity of the two scores but a more significant contribution of the Dimeglio score. Among subcomponents, hindfoot score, midfoot score, varus and muscular abnormality were independent predictors of the number of casts. Both Dimeglio and Pirani scores were significantly associated with the need for tenotomy (p value = .0000), and odds ratios and cut-off points were calculated. The receiving operator curve (ROC) analysis showed slightly better performance of the Dimeglio in comparison with the Pirani score in predicting the need for tenotomy, but the difference between the two areas under the curve (AUC) was not significant (p = .48). CONCLUSIONS: A quite accurate prediction of the number of casts and the need for tenotomy can be performed in most cases. The Dimeglio score showed slightly better accuracy in predicting both steps of Ponseti treatment.


Asunto(s)
Moldes Quirúrgicos/estadística & datos numéricos , Pie Equinovaro/diagnóstico , Evaluación de la Discapacidad , Tenotomía/estadística & datos numéricos , Área Bajo la Curva , Pie Equinovaro/terapia , Femenino , Pie/fisiopatología , Humanos , Lactante , Recién Nacido , Masculino , Estudios Prospectivos , Curva ROC , Reproducibilidad de los Resultados , Resultado del Tratamiento
19.
Acta Orthop ; 89(4): 448-453, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29843536

RESUMEN

Background and purpose - The Ponseti treatment is successful in idiopathic clubfoot. However, approximately 11-48% of all clubfeet maintain residual deformities or relapse. Early treatment, which possibly reduces the necessity for additional surgery, requires early identification of these problematic clubfeet. We identify deformities of residual/relapsed clubfeet and the treatments applied to tackle these deformities in a large tertiary clubfoot treatment center. Patients and methods - Retrospective chart review of patients who visited our clinic between 2012 and 2015 focused on demographics, deformities of the residual/relapsed clubfoot, and applied treatment. Residual deformities were defined as deformities that were never fully corrected and needed additional treatment. We defined relapse as any deformity of the clubfoot reoccurring, after initial successful treatment, with necessity for additional treatment. Results - We identified 33 patients with residual and 55 patients with relapsed clubfeet. In both groups decreased dorsal flexion and adduction were the most often registered deformities. Furthermore, often equinus/decreased dorsiflexion, active supination, and varus occurred. In more than half, typical profiles of combined deformities were found. Relapses occurred at all stages of treatment and follow-up; half of the residual or relapsed clubfeet were identified before the end of the bracing period. In half of the patients, additional treatment consisted of the Ponseti treatment, one-quarter also required adaptation of the brace protocol, and one-quarter needed additional surgery. The Ponseti treatment was mainly reapplied if feet presented with relapses or residues until the age of 5. Interpretation - Practitioners should especially be aware of equinus/decreased dorsiflexion, adduction, and active supination as a sign of a residual or relapsed clubfoot. Due to the heterogeneous profiles of these clubfeet, treatment strategy should be based on a step-by step approach including recasting, bracing, and if necessary surgical intervention.


Asunto(s)
Pie Equinovaro/terapia , Adolescente , Distribución por Edad , Tirantes , Moldes Quirúrgicos , Niño , Preescolar , Pie Equinovaro/diagnóstico , Pie Equinovaro/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Rango del Movimiento Articular/fisiología , Recurrencia , Estudios Retrospectivos
20.
J Foot Ankle Surg ; 57(1): 155-158, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29268899

RESUMEN

The deformity known as congenital idiopathic talipes equinovarus (CTEV) is probably the most common (1 to 2 in 1000 live births) congenital orthopedic condition requiring intensive treatment. With the perception that the treatment of idiopathic CTEV by extensive soft tissue release is often complicated by stiffness, recurrence, and the need for additional procedures, the minimally invasive Ponseti method has been accepted as the first line of treatment, which has achieved excellent results globally. The Ponseti method has achieved excellent results in children with idiopathic CTEV aged ≤2 years. However, the upper age limit for the Ponseti treatment has not yet been defined. We reviewed the published data to determine the efficacy of the Ponseti method in older children with neglected CTEV.


Asunto(s)
Pie Equinovaro/cirugía , Procedimientos Ortopédicos/métodos , Recuperación de la Función , Tendones/cirugía , Adolescente , Factores de Edad , Niño , Preescolar , Pie Equinovaro/diagnóstico , Femenino , Humanos , Masculino , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Rango del Movimiento Articular/fisiología , Medición de Riesgo , Resultado del Tratamiento
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