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1.
Taiwan J Obstet Gynecol ; 63(4): 545-548, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39004484

RESUMEN

OBJECTIVE: We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound. CASE REPORT: A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512-29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC. CONCLUSION: Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.


Asunto(s)
Amniocentesis , Deleción Cromosómica , Cromosomas Humanos Par 10 , Pie Equinovaro , Hidronefrosis , Ultrasonografía Prenatal , Humanos , Femenino , Pie Equinovaro/genética , Pie Equinovaro/diagnóstico por imagen , Embarazo , Adulto , Hidronefrosis/genética , Hidronefrosis/diagnóstico por imagen , Cromosomas Humanos Par 10/genética , Aborto Inducido
2.
Bone Joint J ; 106-B(7): 735-743, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38945546

RESUMEN

Aims: There is a lack of high-quality research investigating outcomes of Ponseti-treated idiopathic clubfeet and correlation with relapse. This study assessed clinical and quality of life (QoL) outcomes using a standardized core outcome set (COS), comparing children with and without relapse. Methods: A total of 11 international centres participated in this institutional review board-approved observational study. Data including demographics, information regarding presentation, treatment, and details of subsequent relapse and management were collected between 1 June 2022 and 30 June 2023 from consecutive clinic patients who had a minimum five-year follow-up. The clubfoot COS incorporating 31 parameters was used. A regression model assessed relationships between baseline variables and outcomes (clinical/QoL). Results: Overall, 293 patients (432 feet) with a median age of 89 months (interquartile range 72 to 113) were included. The relapse rate was 37%, with repeated relapse in 14%. Treatment considered a standard part of the Ponseti journey (recasting, repeat tenotomy, and tibialis anterior tendon transfer) was performed in 35% of cases, with soft-tissue release and osteotomies in 5% and 2% of cases, respectively. Predictors of relapse included duration of follow-up, higher initial Pirani score, and poor Evertor muscle activity. Relapse was associated with poorer outcomes. Conclusion: This is the first multicentre study using a standardized COS following clubfoot treatment. It distinguishes patients with and without relapse in terms of clinical outcomes and QoL, with poorer outcomes in the relapse group. This tool allows comparison of treatment methods and outcomes, facilitates information sharing, and sets family expectations. Predictors of relapse encourage us to create appropriate treatment pathways to reduce relapse and improve outcome.


Asunto(s)
Pie Equinovaro , Calidad de Vida , Recurrencia , Humanos , Pie Equinovaro/terapia , Masculino , Femenino , Niño , Preescolar , Resultado del Tratamiento , Moldes Quirúrgicos , Lactante , Tenotomía/métodos , Estudios de Seguimiento
3.
J Orthop Surg Res ; 19(1): 345, 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38858754

RESUMEN

BACKGROUND: Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV. METHODS: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0). RESULTS: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant. CONCLUSION: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results.


Asunto(s)
Pie Equinovaro , Colágeno Tipo IX , Predisposición Genética a la Enfermedad , Humanos , Pie Equinovaro/genética , Predisposición Genética a la Enfermedad/genética , Colágeno Tipo IX/genética , Estudios de Casos y Controles , Polimorfismo de Nucleótido Simple
4.
Medicine (Baltimore) ; 103(24): e38377, 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38875390

RESUMEN

Ultrasound (US) can guide and confirm percutaneous release of the achilles tendon in the clubfoot. However, this technique may not always be available; therefore, surgeons' reported feelings of tendon release ("click" or "pop") and the Thompson sign could demonstrate that they are sensitive and reliable for confirming complete tendon release. The purpose of this study was to compare the reproducibility of clinical maneuvers that aim to detect the reported "click" or "pop" sensation by the surgeon and the Thompson sign after surgical release in percutaneous achilles tenotomy compare with US in patients with clubfoot. A cross-sectional reproducibility study of consecutive patients with idiopathic clubfoot was conducted. All the patients were scheduled to undergo tenotomy in the operating room using the standard percutaneous achilles tenotomy technique under sedation. The surgeon's reported surgical sensation ("click" or "pop") and Thompson signs were compared to the US assessment of the cut. The final Pirani score was used to predict recurrence risk and was correlated with the number of plaster casts and age. Forty-five feet were affected in 30 patients. Eighteen (60%) men. Age range: 1 to 60 months. The sensation of "click" or "pop" was recorded in 38 patients, and complete release was confirmed by US in 37 patients, for a sensitivity (Se) of 0.95 and specificity (Sp) of 0.63. Thompson signs were positive in 33 and 36 patients at 2 evaluations, with Se values of 0.87 and 0.92 and Sp values of 0.88 and 0.75, respectively. The Pirani final score, a predictor of recurrence risk, had an area under the curve of 0.80 (95% CI = 0.63-0.97; P = .005), Se = 0.78, and Sp = 0.56, with a cutoff point of 2.75. The feeling of achilles tendon release and Thompson sign had high sensitivity, prevalence, accuracy, and posttest probability. The confirmation of tendon release based on clinical signs could prevent the use of US.


Asunto(s)
Tendón Calcáneo , Pie Equinovaro , Recurrencia , Tenotomía , Humanos , Pie Equinovaro/cirugía , Pie Equinovaro/diagnóstico por imagen , Masculino , Femenino , Tendón Calcáneo/cirugía , Tendón Calcáneo/diagnóstico por imagen , Estudios Transversales , Lactante , Tenotomía/métodos , Reproducibilidad de los Resultados , Preescolar , Ultrasonografía/métodos , Valor Predictivo de las Pruebas
5.
PLoS One ; 19(6): e0305900, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38924021

RESUMEN

BACKGROUND: This study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases. METHODS: A national register, the Swedish Pediatric Orthopedic Quality Register, was used to extract data on children born with clubfoot in 2016-2019. Children with a registered evaluation after initial treatment were included. Data on deformity severity (Pirani score), casting treatment, and achillotenotomy were extracted. For children with bilateral clubfeet, one foot was included in the analysis. RESULTS: A total of 565 children were included in the analysis. Of these, 73% were boys and 47% had bilateral clubfeet. Children with isolated clubfoot required a median of six casts to correct the deformity, while children with non-isolated clubfoot needed a median of eight casts. Seventy-seven percent underwent an achillotenotomy. Residual deformities of 0.5 or above (often soft-tissue issues) according to the Pirani score were noted in 23% (isolated clubfoot) and 61% (non-isolated clubfoot) after initial treatment. CONCLUSIONS: We have described the initial clubfoot treatment of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. The initial treatment was performed to a large extent according to the Ponseti method and international recommendations. Moreover, we discuss the usefulness of the Pirani score in classifying clubfoot deformity after treatment.


Asunto(s)
Pie Equinovaro , Sistema de Registros , Pie Equinovaro/terapia , Pie Equinovaro/epidemiología , Humanos , Suecia/epidemiología , Masculino , Femenino , Lactante , Preescolar , Moldes Quirúrgicos , Resultado del Tratamiento , Niño , Recién Nacido
6.
Radiographics ; 44(7): e230178, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38935547

RESUMEN

Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common musculoskeletal entity that affects one to two per 1000 live births worldwide. Imaging modalities including radiography, US, and MRI have emerged as valuable tools for the diagnosis, treatment, and monitoring of CTEV. The deformity is characterized by midfoot cavus, forefoot adductus, and hindfoot varus and equinus. The Ponseti method of manipulation and serial casting is the standard treatment of CTEV. Radiography shows the anatomy, position, and relationships of the different bones of the foot. US allows accurate assessment of cartilaginous and bony structures, in addition to its inherent advantages such as absence of ionizing radiation exposure. One of the indications for US is to monitor the response to Ponseti method treatment. MRI enables visualization of bones, cartilage, and soft tissues and allows multiplanar evaluation of deformities, providing a comprehensive imaging analysis of CTEV. An integrated approach that combines clinical examination and imaging findings is essential for effective management of CTEV. The authors provide a comprehensive overview of CTEV with a review of imaging modalities to help evaluate CTEV, focusing on radiography, US, and MRI. Using this article as a guide, radiologists involved in the assessment and treatment of CTEV can contribute to the management of the condition. ©RSNA, 2024 Supplemental material is available for this article.


Asunto(s)
Pie Equinovaro , Pie Equinovaro/diagnóstico por imagen , Pie Equinovaro/terapia , Humanos , Imagen por Resonancia Magnética/métodos , Recién Nacido , Lactante
7.
Surg Radiol Anat ; 46(7): 1121-1129, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38743143

RESUMEN

PURPOSE: Selective tibial neurotomy (STN) is a surgical procedure for treating spastic equinovarus foot. Hyperselective neurectomy (HSN) of tibial nerve is a modified STN procedure, which was rarely discussed. This study aimed to describe the branching patterns of the tibial nerve and propose an optimal surgical incision of HSN for treatment of spastic equinovarus foot. METHODS: Sixteen lower limbs were dissected to determine the various branching patterns of the tibial nerve and categorized according to these branching patterns. The mean distances from the nerve entry points to the tip of femur's medial epicondyle were measured, as well as their percentage to the overall length of the leg. The surgical incision was designed according to the range of these nerve entry points. RESULTS: The tibial nerve sent out proximal and distal motor branches based on their position relative to the soleus muscle's tendinous arch. For proximal motor branches, the branches innervating the medial gastrocnemius, lateral gastrocnemius and proximal soleus were categorized into types I (9/16), II (5/16) and III (2/16). Measurements from the medial epicondyle to the nerve entry points into the medial gastrocnemius, lateral gastrocnemius and proximal soleus ranged from 14 to 33 mm (4-9% of leg length), 22-45 mm (6-12%) and 35-81 mm (10-22%), respectively. Distal motor branches including the distal soleus, posterior tibialis, flexor digitorum longus and flexor hallucis longus, were classified as types A (8/14), B (4/14) and C (2/14), with the distances from their respective terminal points to the medial epicondyle were 67-137 mm (19-39%), 74-125 mm (20-35%), 116-243 mm (33-69%) and 125-272 mm (35-77%). CONCLUSIONS: The motor branches of tibial nerve were classified into two groups and each subdivided into three types. Detailed location parameters may serve as an anatomical basis for designing incision of HSN.


Asunto(s)
Cadáver , Nervio Tibial , Nervio Tibial/anatomía & histología , Nervio Tibial/cirugía , Humanos , Masculino , Femenino , Músculo Esquelético/inervación , Músculo Esquelético/anatomía & histología , Pie Equinovaro/cirugía , Anciano , Persona de Mediana Edad , Desnervación/métodos
8.
BMC Musculoskelet Disord ; 25(1): 425, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38822269

RESUMEN

BACKGROUND: The Ponseti method for treating clubfoot consists of initial treatment with serial casting accompanied by achillotenotomy if needed, followed by the maintenance phase including treatment with a foot abduction orthosis (FAO) for at least four years. This study aimed to examine the duration, course, and outcome of orthotic treatment in children with clubfoot. METHODS: 321 children with clubfoot, born between 2015 and 2017, registered in the Swedish Pediatric Orthopedic Quality Register (SPOQ), were included in this prospective cohort study. Data on deformity characteristics and orthotic treatment were extracted. For children with bilateral clubfoot, one foot was included in the analysis. RESULTS: Of the 288 children with isolated clubfoot, 274 children (95.5%) were prescribed an FAO, and 100 children (35%) changed orthosis type before 4 years of age. Of the 33 children with non-isolated clubfoot, 25 children (76%) were prescribed an FAO, and 21 children (64%) changed orthosis type before 4 years of age. 220 children with isolated clubfoot (76%), and 28 children with non-isolated clubfoot (84%) continued orthotic treatment until 4 years of age or longer. Among children with isolated clubfoot, children ending orthotic treatment before 4 years of age (n = 63) had lower Pirani scores at birth compared to children ending orthotic treatment at/after 4 years of age (n = 219) (p = 0.01). It was more common to change orthosis type among children ending orthotic treatment before 4 years of age (p = 0.031). CONCLUSIONS: The majority of children with clubfoot in Sweden are treated with an FAO during the maintenance phase. The proportion of children changing orthosis type was significantly greater and the Pirani score at diagnosis was lower significantly among children ending orthotic treatment before 4 years of age. Long-term follow-up studies are warranted to fully understand how to optimize, and individualize, orthotic treatment with respect to foot involvement and severity of deformity. LEVEL OF EVIDENCE: II.


Asunto(s)
Pie Equinovaro , Ortesis del Pié , Sistema de Registros , Humanos , Pie Equinovaro/terapia , Suecia/epidemiología , Masculino , Femenino , Preescolar , Estudios de Seguimiento , Resultado del Tratamiento , Estudios Prospectivos , Lactante , Niño , Factores de Tiempo , Moldes Quirúrgicos/tendencias , Aparatos Ortopédicos , Tenotomía/métodos , Tenotomía/tendencias
9.
BMC Pediatr ; 24(1): 309, 2024 May 06.
Artículo en Inglés | MEDLINE | ID: mdl-38711130

RESUMEN

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.


Asunto(s)
Anomalías Múltiples , Proteínas Portadoras , Deformidades Congénitas de la Mano , Mutación Missense , Uñas Malformadas , Humanos , Femenino , Anomalías Múltiples/genética , Proteínas Portadoras/genética , Recién Nacido , Proteínas Nucleares/genética , Discapacidad Intelectual/genética , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/complicaciones , Pie Equinovaro/genética , Fenotipo , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/complicaciones , Degrones
10.
Int Orthop ; 48(7): 1793-1797, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38602555

RESUMEN

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.


Asunto(s)
Pie Equinovaro , Ultrasonografía , Humanos , Pie Equinovaro/diagnóstico por imagen , Estudios Retrospectivos , Masculino , Femenino , Estudios Transversales , Ultrasonografía/métodos , Lactante , Factores de Riesgo , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/complicaciones , Luxación Congénita de la Cadera/diagnóstico , Recién Nacido , Examen Físico/métodos , Displasia del Desarrollo de la Cadera/diagnóstico por imagen , Tamizaje Masivo/métodos
11.
J Med Genet ; 61(7): 699-706, 2024 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-38663984

RESUMEN

BACKGROUND: Clubfoot, presenting as a rigid inward and downward turning of the foot, is one of the most common congenital musculoskeletal anomalies. The aetiology of clubfoot is poorly understood and variants in known clubfoot disease genes account for only a small portion of the heritability. METHODS: Exome sequence data were generated from 1190 non-syndromic clubfoot cases and their family members from multiple ethnicities. Ultra-rare variant burden analysis was performed comparing 857 unrelated clubfoot cases with European ancestry with two independent ethnicity-matched control groups (1043 in-house and 56 885 gnomAD controls). Additional variants in prioritised genes were identified in a larger cohort, including probands with non-European ancestry. Segregation analysis was performed in multiplex families when available. RESULTS: Rare variants in 29 genes were enriched in clubfoot cases, including PITX1 (a known clubfoot disease gene), HOXD12, COL12A1, COL9A3 and LMX1B. In addition, rare variants in posterior HOX genes (HOX9-13) were enriched overall in clubfoot cases. In total, variants in these genes were present in 8.4% (100/1190) of clubfoot cases with both European and non-European ancestry. Among these, 3 are de novo and 22 show variable penetrance, including 4 HOXD12 variants that segregate with clubfoot. CONCLUSION: We report HOXD12 as a novel clubfoot disease gene and demonstrate a phenotypic expansion of known disease genes (myopathy gene COL12A1, Ehlers-Danlos syndrome gene COL9A3 and nail-patella syndrome gene LMX1B) to include isolated clubfoot.


Asunto(s)
Pie Equinovaro , Secuenciación del Exoma , Proteínas de Homeodominio , Femenino , Humanos , Masculino , Pie Equinovaro/genética , Pie Equinovaro/patología , Exoma/genética , Predisposición Genética a la Enfermedad , Proteínas de Homeodominio/genética , Linaje , Factores de Transcripción/genética
12.
J Pediatr Orthop ; 44(6): e566-e569, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38597220

RESUMEN

BACKGROUND: Talipesequinovarus is a congenital ankle/foot malformation that commonly affects newborns. In its treatment using the Ponseti method, an Achilles tenotomy is frequently needed to correct residual equinus deformity. Percutaneous (PC) tenotomy is the most commonly used technique and needs to be thoroughly evaluated. The question we needed to answer was: "Does PC Achilles tenotomy result in complete tendon sectioning"? METHODS: This clinical study included 56 idiopathic clubfeet in 36 patients who presented during the first 6 months of life and were treated with Ponseti manipulation and casting followed by PC Achilles tenotomy. PC tenotomy was done under general anesthesia, and Thompson's calf squeeze test was performed intraoperatively just after tenotomy. In case of a negative test (ie, ankle plantar flexion with calf squeeze), the percutaneous incision was extended to assess the cause of the negative test. RESULTS: Forty-nine feet (87.5%) had a complete tenotomy, as evidenced by a positive Thompson's calf squeeze test. While 7 feet (12.5%) showed a negative test, and therefore the percutaneous incision was extended and all were found to have an incompletely divided Achilles tendon. The tendons were then completely divided, after which Thompson's test became positive in all. CONCLUSION: Percutaneous Achilles tenotomy is a reliable procedure, but was found to result in incomplete tendon sectioning in 12.5% of cases, affecting the range of ankle dorsiflexion. Thompson's squeeze test is reliable in picking up cases of incomplete tenotomy after the PC technique, and in these cases the incision should be extended for complete sectioning. LEVEL OF EVIDENCE: Level I.


Asunto(s)
Tendón Calcáneo , Pie Equinovaro , Tenotomía , Humanos , Pie Equinovaro/cirugía , Tenotomía/métodos , Tendón Calcáneo/cirugía , Lactante , Femenino , Masculino , Resultado del Tratamiento , Reproducibilidad de los Resultados , Moldes Quirúrgicos , Recién Nacido
13.
J Pediatr Orthop ; 44(7): 438-442, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38584368

RESUMEN

BACKGROUND: Congenital talipes equinovarus, also known as "clubfoot," is a common congenital deformity. While reported relapse rates vary widely, relapse continues to be a common problem faced in the treatment of this condition. The objective of this study is to assess relationships between demographic/socioeconomic factors, follow-up, and rates of relapse in our population of clubfoot patients. METHODS: Retrospective chart review was conducted for patients undergoing treatment for idiopathic clubfoot from February 2012 to December 2022 at a tertiary children's hospital. Records were analyzed for follow-up adherence and recurrence in the Ponseti method, in addition to patient demographic and socioeconomic factors. Statistical analysis was performed to evaluate associations between recurrence, missed clinical visits, and demographic/socioeconomic factors of interest. RESULTS: Ninety-five patients were included in the study [74.7% male (N=71) and 25.2% female (N=24)]. A total of 64.2% (N=61) of patients developed recurrence during their treatment. Recurrence rates differed significantly by reported bracing noncompliance >1 month (35/46 vs. 26/49, P =0.019), having missed 1 or more clinical visits (38/61 vs. 8/34, P < 0.001), Medicaid or equivalent insurance type (41/56 vs. 20/39, P =0.028), non-white race (47/66 vs. 14/29, P =0.032, higher Social Deprivation Index score (56.13 vs. 41.06, P =0.019). Significant variables were analyzed using a multivariate logistic regression analysis (MVLR). After MVLR, having 1 or more missed clinical visits (OR 4.462, 95% CI: 1.549-12.856) remained significantly associated with increased rates of recurrence. Primary language preference and distance to the hospital were not associated with recurrence. CONCLUSIONS: Higher SDI scores, non-white race, Medicaid insurance, and missed clinical follow-up visits were all associated with increased rates of recurrence for clubfoot patients. Using an MVLR model, missed clinical follow-up visits remained independently associated with increased recurrence rates. LEVEL OF EVIDENCE: Level 2-retrospective, prognostic study.


Asunto(s)
Pie Equinovaro , Recurrencia , Humanos , Pie Equinovaro/terapia , Masculino , Femenino , Estudios Retrospectivos , Lactante , Cooperación del Paciente/estadística & datos numéricos , Preescolar , Factores Socioeconómicos , Tirantes , Medicaid/estadística & datos numéricos , Estudios de Seguimiento , Estados Unidos
14.
Acta Ortop Mex ; 38(1): 44-47, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38657150

RESUMEN

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.


Asunto(s)
Síndrome de Bandas Amnióticas , Pie Equinovaro , Pie Equinovaro/terapia , Pie Equinovaro/cirugía , Humanos , Recién Nacido , Lactante , Moldes Quirúrgicos
15.
JBJS Case Connect ; 14(2)2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38669349

RESUMEN

CASE: The patient was an 18-year-old man who had sustained diaphyseal fractures of the left femur and tibia in a traffic accident and underwent surgery at another hospital. A severe left foot equinovarus deformity developed in the early after surgery. The patient's left foot deformity was addressed using unconstrained gradual external fixator correction (the Matsushita method) in combination with soft-tissue contracture through Achilles tendon lengthening and was maintained after removing the external fixation. CONCLUSION: The Matsushita method can be effective in the correction of post-traumatic equinovarus foot deformities.


Asunto(s)
Tendón Calcáneo , Pie Equino , Técnica de Ilizarov , Humanos , Masculino , Adolescente , Tendón Calcáneo/cirugía , Técnica de Ilizarov/instrumentación , Pie Equino/cirugía , Pie Equino/etiología , Fracturas de la Tibia/cirugía , Fracturas de la Tibia/diagnóstico por imagen , Fracturas del Fémur/cirugía , Pie Equinovaro/cirugía
16.
Afr J Paediatr Surg ; 21(2): 85-89, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38546244

RESUMEN

BACKGROUND: The Ponseti technique remains the preferred method for club foot treatment. Although measures of treatment outcomes have been well documented, there is no consensus on the determinants of those outcomes. This study aims to assess treatment outcomes and the factors which can influence treatment outcomes. MATERIALS AND METHODS: This is a cross-sectional study. A total of 472 children representing 748 feet in total were recruited. Patient characteristics such as age at presentation, gender, tenotomy, walking with or without deformity, parental educational status and occupation were documented. Outcomes of care were assessed using indictors such as parents' satisfaction with the outcome of treatment and the patients' ambulation without deformity. The relationships between the determinant factors and these outcomes were explored using multivariable binary logistic regression. RESULTS: Most of the children (69.1%) were aged below 2 years. Brace compliance was very high (89.9%). The pre-treatment average Pirani scores were 3.9 ± 1.8 and 4.3 ± 1.8 for the right and left feet, respectively. Majority (88.3%) of the children achieved ambulation without deformity, whereas most (87%) of the parents were satisfied with the treatment outcomes. In total, parental satisfaction with child's treatment outcomes was lower in parents who were not formally educated odds ratio (OR) = 0.19 (95% confidence interval [CI] 0.08-0.43), but parental satisfaction was lower if the child had higher Pirani score OR = 0.77 (95% CI 0.62-0.96). Children who had more casts applied to the affected foot were more likely to walk without deformity OR = 1.24 (95% CI 1.01-1.52). CONCLUSIONS: This study revealed that treatment outcomes in children with club foot can be determined by some sociodemographic and treatment-related factors.


Asunto(s)
Pie Equinovaro , Niño , Humanos , Lactante , Anciano , Pie Equinovaro/terapia , Estudios Transversales , Moldes Quirúrgicos , Pie , Resultado del Tratamiento
17.
J Foot Ankle Surg ; 63(3): 398-403, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38316372

RESUMEN

Noninvasive techniques are gold standard to redress Severe Neuromuscular Foot Deformity (SNFD). However, simple talectomy may be considered to obtain a stable, plantigrade, pain-free foot. We present a 10-year follow-up accessing radiological correction rates, functional outcomes, complications, and patient satisfaction. This retrospective case series evaluated talectomies in 2012 to 2022. Simple talectomy was combined with Steinman pin fixation of calcaneus to tibia for approximately 6 weeks. Diagnoses primarily included arthrogryposis multiplex congenita and cerebral palsy. Indications were pain, wounds/pressure marks, severe rigidity, and residual/recurrent deformity. The primary outcome was radiological correction. Tibiotalar angle (TiTa) and tibiocalcaneal angle (TiCa) were measured on mediolateral projections. Secondary outcomes were functional scores of pain/deformity graded as good, fair or poor. Furthermore, validated patient-reported outcome measures, that is, EQ-5D-5L and the Scoliosis Research Society-30 Questionnaire (2 items) assessed health-related quality of life and patient satisfaction. Nineteen talectomies in 11 patients were analyzed. Mean follow-up was 62 months (range 9-112 months). Mean TiTa was 137° (95%CI 128;146). TiCa improved significantly: Mean difference -24° (95%CI -44;-5, p = .02). All feet became plantigrade and pain-free with no skin issues. Functional outcomes were graded as 9/19 good, 10/19 fair and 0/19 poor. Parents/primary caregivers were mainly satisfied. Perceived health was 54 (95%CI 34;75) out of 100 on a visual analogue scale, emphasizing complex medical conditions. In conclusion, simple talectomy is a suitable salvage procedure for SNFD.


Asunto(s)
Pie Equinovaro , Humanos , Estudios Retrospectivos , Masculino , Femenino , Pie Equinovaro/cirugía , Niño , Adolescente , Astrágalo/cirugía , Satisfacción del Paciente , Adulto , Preescolar , Adulto Joven , Estudios de Seguimiento , Resultado del Tratamiento , Artrogriposis/cirugía
18.
Int Orthop ; 48(6): 1533-1541, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38340143

RESUMEN

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.


Asunto(s)
Tendón Calcáneo , Pie Equinovaro , Tenotomía , Ultrasonografía , Humanos , Tendón Calcáneo/cirugía , Tendón Calcáneo/diagnóstico por imagen , Tendón Calcáneo/fisiopatología , Pie Equinovaro/cirugía , Pie Equinovaro/fisiopatología , Tenotomía/métodos , Estudios Retrospectivos , Masculino , Niño , Femenino , Preescolar , Lactante , Regeneración/fisiología , Rango del Movimiento Articular/fisiología , Resultado del Tratamiento
19.
BMJ Case Rep ; 17(2)2024 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-38373814

RESUMEN

Congenital talipes equinovarus (CTEV) is a congenital deformity affecting the feet, commonly idiopathic in nature. We present a previously unreported cause of a non-idiopathic clubfoot and highlight the importance of poor response to initial treatment.A poor response to Ponseti serial casting for CTEV should alert a clinician to the fact that the foot may not be in the 'idiopathic' group and be of a more complex nature. Idiopathic clubfoot should correct with a maximum of eight serial manipulations, cast applications and Achilles tendon tenotomy. If this is not the case, a repeat careful history, full examination, further investigations and review of the treatment method are required.


Asunto(s)
Pie Equinovaro , Humanos , Lactante , Pie Equinovaro/diagnóstico , Pie Equinovaro/cirugía , Resultado del Tratamiento , Moldes Quirúrgicos , Tenotomía , Pie
20.
JAMA Intern Med ; 184(3): 242-251, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38252426

RESUMEN

Importance: Use of buprenorphine or methadone to treat opioid use disorder is recommended in pregnancy; however, their teratogenic potential is largely unknown. Objective: To compare the risk of congenital malformations following in utero exposure to buprenorphine vs methadone. Design, Setting, and Participants: This population-based cohort study used health care utilization data from publicly insured Medicaid beneficiaries in the US from 2000 to 2018. A total of 13 360 pregnancies with enrollment from 90 days prior to pregnancy start through 1 month after delivery and first trimester use of buprenorphine or methadone were included and linked to infants. Data were analyzed from July to December 2022. Exposure: A pharmacy dispensing of buprenorphine or a code for administration of methadone in the first trimester. Main Outcomes and Measures: Primary outcomes included major malformations overall and malformations previously associated with opioids (any cardiac malformations, ventricular septal defect, secundum atrial septal defect/nonprematurity-related patent foramen ovale, neural tube defects, clubfoot, and oral clefts). Secondary outcomes included other organ system-specific malformations. Risk differences and risk ratios (RRs) were estimated comparing buprenorphine with methadone, adjusting for confounders with propensity score overlap weights. Results: The cohort included 9514 pregnancies with first-trimester buprenorphine exposure (mean [SD] maternal age, 28.4 [4.6] years) and 3846 with methadone exposure (mean [SD] maternal age, 28.8 [4.7] years). The risk of malformations overall was 50.9 (95% CI, 46.5-55.3) per 1000 pregnancies for buprenorphine and 60.6 (95% CI, 53.0-68.1) per 1000 pregnancies for methadone. After confounding adjustment, buprenorphine was associated with a lower risk of malformations compared with methadone (RR, 0.82; 95% CI, 0.69-0.97). Risk was lower with buprenorphine for cardiac malformations (RR, 0.63; 95% CI, 0.47-0.85), including both ventricular septal defect (RR, 0.62; 95% CI, 0.39-0.98) and secundum atrial septal defect/nonprematurity-related patent foramen ovale (RR, 0.54; 95% CI, 0.30-0.97), oral clefts (RR, 0.65; 95% CI, 0.35-1.19), and clubfoot (RR, 0.55; 95% CI, 0.32-0.94). Results for neural tube defects were uncertain given low event counts. In secondary analyses, buprenorphine was associated with a decreased risk of central nervous system, urinary, and limb malformations but a greater risk of gastrointestinal malformations compared with methadone. These findings were consistent in sensitivity and bias analyses. Conclusions and Relevance: In this cohort study, the risk of most malformations previously associated with opioid exposure was lower in buprenorphine-exposed infants compared with methadone-exposed infants, independent of measured confounders. Malformation risk is one factor that informs the individualized patient decision regarding medications for opioid use disorder in pregnancy.


Asunto(s)
Buprenorfina , Pie Equinovaro , Foramen Oval Permeable , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Defectos del Tubo Neural , Trastornos Relacionados con Opioides , Complicaciones del Embarazo , Embarazo , Lactante , Femenino , Humanos , Adulto , Metadona/efectos adversos , Buprenorfina/efectos adversos , Primer Trimestre del Embarazo , Estudios de Cohortes , Pie Equinovaro/complicaciones , Pie Equinovaro/tratamiento farmacológico , Foramen Oval Permeable/complicaciones , Foramen Oval Permeable/tratamiento farmacológico , Complicaciones del Embarazo/tratamiento farmacológico , Trastornos Relacionados con Opioides/tratamiento farmacológico , Analgésicos Opioides/efectos adversos , Cardiopatías Congénitas/inducido químicamente , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/complicaciones , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/tratamiento farmacológico , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/tratamiento farmacológico
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