RESUMO
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 13â¯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.
Assuntos
Buprenorfina , Pé Torto Equinovaro , Forame Oval Patente , Cardiopatias Congênitas , Comunicação Interventricular , Defeitos do Tubo Neural , Transtornos Relacionados ao Uso de Opioides , Complicações na Gravidez , Gravidez , Lactente , Feminino , Humanos , Adulto , Metadona/efeitos adversos , Buprenorfina/efeitos adversos , Primeiro Trimestre da Gravidez , Estudos de Coortes , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/tratamento farmacológico , Forame Oval Patente/complicações , Forame Oval Patente/tratamento farmacológico , Complicações na Gravidez/tratamento farmacológico , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico , Analgésicos Opioides/efeitos adversos , Cardiopatias Congênitas/induzido quimicamente , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/complicações , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/tratamento farmacológico , Comunicação Interventricular/complicações , Comunicação Interventricular/tratamento farmacológicoRESUMO
BACKGROUND: As the incidence of childhood obesity continues to rise, so too does the number of obese children who undergo foot surgery. As the childhood obesity epidemic rolls on, pediatric orthopaedic surgeons will encounter obese patients with even greater frequency. Therefore, a comprehensive understanding of the risks associated with obesity is valuable to maximize patient safety. The purpose of this study is to retrospectively evaluate the relationship between obesity and postoperative outcomes in patients undergoing pediatric foot surgery across multiple institutions using a large national database. METHODS: Pediatric patients who had undergone foot surgery were retrospectively identified using the American College of Surgeons 2012-2017 Pediatric National Surgical Quality Improvement (ACS-NSQIP-Pediatric) database by cross-referencing reconstructive foot-specific CPT codes with ICD-9/ICD-10 diagnosis codes. Center for Disease Control BMI-to-age growth charts were used to stratify patients into normal-weight and obese cohorts. Univariate and multivariate analyses were performed to describe and assess outcomes in obese compared with normal-weight patients. RESULTS: Of the 3924 patients identified, 1063 (27.1%) were obese. Compared with normal-weight patients, obese patients were more often male (64.7% vs. 58.7%; P =0.001) and taller (56.3 vs. 51.3 inches; P <0.001). Obese patients had significantly higher rates of overall postoperative complications (3.01% vs. 1.32%; P =0.001) and wound dehiscence (1.41% vs. 0.59%; P =0.039). Multivariate analysis found that obesity was an independent predictor of both wound dehiscence [adjusted odds ratio (OR)=2.16; 95% CI=1.05-4.50; P =0.037] and surgical site infection (adjusted OR=3.03; 95% CI=1.39-6.61; P =0.005). Subgroup analysis of patients undergoing clubfoot capsular release procedures identified that obese patients had a higher rate of wound dehiscence (3.39% vs. 0.51%; P =0.039) compared with normal-weight patients. In multivariate analysis, obesity was an independent predictor of dehiscence (adjusted OR=5.71; 95% CI=1.46-22.31; P =0.012) in this procedure group. There were no differences in complication rates between obese and normal-weight patients in a subgroup analysis of tarsal coalition procedures or clubfoot tibialis anterior tendon transfer procedures. CONCLUSION: Obese children undergoing foot surgery had higher overall complication rates, wound complications, and surgical site infections compared with children of normal weight. As the incidence of childhood obesity continues to rise, this information may be useful in assessing and discussing surgical risks with patients and their families. LEVEL OF EVIDENCE: III.
Assuntos
Pé Torto Equinovaro , Obesidade Infantil , Humanos , Criança , Masculino , Estudos Retrospectivos , Obesidade Infantil/complicações , Obesidade Infantil/epidemiologia , Pé Torto Equinovaro/complicações , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/etiologia , Índice de Massa Corporal , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologiaRESUMO
BACKGROUND: TARP syndrome, characterized by talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava, is an X-linked recessive condition caused by deleterious variants in RBM10. Vitelline vascular remnants (VVR) are a rare vitelline duct anomaly with approximately 26 cases previously reported. There are no previously reported cases of VVRs in patients with TARP syndrome. CASE: We present a male neonate diagnosed with TARP syndrome via trio whole exome sequencing who had classic features of this syndrome, although his course was additionally complicated by feeding intolerance with multiple episodes of abdominal distension. Serial imaging and contrast studies of the upper GI tract and small bowel demonstrated small bowel obstruction of unclear etiology. Given the poor prognosis associated with this condition, life-sustaining measures were withdrawn, and he passed away at 38 days of age. On autopsy, a VVR was unexpectedly identified with proximal bowel dilation, explaining his feeding intolerance. CONCLUSIONS: We highlight the importance of full post-mortem examination in understanding the complete spectrum of manifestations of genetic syndromes and provide a review of the literature.
Assuntos
Pé Torto Equinovaro , Obstrução Intestinal , Síndrome de Pierre Robin , Humanos , Masculino , Recém-Nascido , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/genética , Veia Cava Superior , Fenótipo , Obstrução Intestinal/etiologia , Proteínas de Ligação a RNA/genéticaRESUMO
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures in 2 or more body areas, often resulting in clubfoot deformities that are typically stiffer than those seen in idiopathic clubfoot deformities. While surgery is routinely used to treat clubfoot in AMC, it has a high rate of recurrence and complications. Current literature suggests serial casting (SC) could be useful in treating clubfoot in AMC, though evidence of its effectiveness is limited. METHODS: Passive range of motion (PROM), dynamic foot pressure, parent-reported Pediatric Outcomes Data Collection Instrument, brace tolerance, and the need for post-casting surgery were evaluated retrospectively in children with AMC treated with SC to address clubfoot deformities. Analysis of variance or paired t tests were used as appropriate on pre-casting, short-term (within 6 mo after SC) and/or longer-term (6 to 18 mo after SC) parameters to determine the effectiveness of SC. Brace tolerance before and after SC was analyzed using the Global Test for Symmetry, and medical records were reviewed to determine the need for surgery post-SC. RESULTS: Forty-six children (6.1±3.1 y old) were cast an average of 2.5±1.9 times, resulting in 206 SC episodes. PROM showed improvement in ankle dorsiflexion and forefoot abduction in the short term (P<0.05), returning to baseline measurements in the long term (P=0.09). Brace tolerance improved after casting (P<0.05). Only 15% of feet required surgery at follow-up at 10.3±5.5 years. There were no significant changes in dynamic foot pressure or Pediatric Outcomes Data Collection Instrument results after SC, except for an increase in the pain subtest (P<0.05). CONCLUSIONS: Serial casting in children with AMC can be effective in temporarily improving PROM and improving brace tolerance, but it does not impact dynamic barefoot position. Positive impact of conservative management in children with AMC can potentially delay or reduce the need for invasive surgical intervention by improving PROM and brace tolerance. LEVEL OF EVIDENCE: Level III, Retrospective Comparative Study.
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Artrogripose , Pé Torto Equinovaro , Humanos , Criança , Lactente , Pé Torto Equinovaro/complicações , Artrogripose/terapia , Artrogripose/complicações , Estudos Retrospectivos , Resultado do Tratamento , Moldes CirúrgicosRESUMO
BACKGROUND: Although the Ponseti method has been used with great success in a variety of nonidiopathic clubfoot deformities, the efficacy of this treatment in clubfeet associated with Down syndrome remains unreported. The purpose of this study is, therefore, to compare treatment characteristics and outcomes of clubfoot patients with Down syndrome to those with idiopathic clubfoot treated with the Ponseti method. METHODS: An Institutional Review Board-approved, retrospective review of prospectively gathered data were performed at a single pediatric hospital over an 18-year period. Patients with either idiopathic clubfeet or clubfeet associated with Down syndrome who were less than 1 year of age at the outset of treatment were treated by the Ponseti method, and had a minimum of 2 year's follow-up were included. Initial Dimeglio score, number of casts, need for heel cord tenotomy, recurrence, and need for further surgery were recorded. Outcomes were classified using the Richards classification system: "good" (plantigrade foot +/- heel cord tenotomy), "fair" (need for a limited procedure), or "poor" (need for a full posteromedial release). RESULTS: Twenty clubfeet in 13 patients with Down syndrome and 320 idiopathic clubfeet in 215 patients were identified. Average follow-up was 73 months for the Down syndrome cohort and 62 months for the idiopathic cohort. Down syndrome patients presented for treatment at a significantly older age (61 vs. 16 d, P =0.00) and with significantly lower average initial Dimeglio scores than the idiopathic cohort (11.3 vs. 13.4, P =0.02). Heel cord tenotomy was performed in 80% of the Down syndrome cohort and 79% of the idiopathic cohort ( P =1.00). Recurrence rates were higher in the Down syndrome cohort (60%) compared with the idiopathic group (37%), but this difference was not statistically significant ( P =0.06). Need for later surgical procedures was similar between the 2 cohorts, though recurrences in the Down syndrome group were significantly less likely to require intra-articular surgery (8.3% vs. 65.5%, P =0.00). Clinical outcomes were 95% "good," 0% "fair," and 5% "poor" in the Down syndrome cohort and 69% "good," 27% "fair," and 4% "poor" in the idiopathic cohort ( P =0.01). CONCLUSIONS: Despite the milder deformity and an older age at presentation, clubfeet associated with Down syndrome have similar rates of recurrence and may have better clinical outcomes when compared with their idiopathic counterparts. When deformities do relapse in Down syndrome patients, significantly less intra-articular surgery is required than for idiopathic clubfeet. LEVEL OF EVIDENCE: Level III.
Assuntos
Pé Torto Equinovaro , Síndrome de Down , Humanos , Criança , Lactente , Seguimentos , Resultado do Tratamento , Pé Torto Equinovaro/cirurgia , Pé Torto Equinovaro/complicações , Síndrome de Down/complicações , Moldes Cirúrgicos , Estudos Retrospectivos , Tenotomia , RecidivaRESUMO
BACKGROUND: Objective gait analysis that fully captures the multi-segmental foot movement of a clubfoot may help in early identification of a relapse clubfoot. Unfortunately, this type of objective measure is still lacking in a clinical setting and it is unknown how it relates to clinical assessment. RESEARCH QUESTION: The aim of this study was to identify differences in total gait and foot deviations between clubfoot patients with and without a relapse clubfoot and to evaluate their relationship with clinical status. METHODS: In this study, Ponseti-treated idiopathic clubfoot patients were included and divided into clubfoot patients with and without a relapse. Objective gait analysis was done resulting in total gait and foot scores and clinical assessment was performed using the Clubfoot Assessment Protocol (CAP). Additionally, a new clubfoot specific foot score, the clubFoot Deviation Index (cFDI*), was calculated to better capture foot kinematics of clubfoot patients. RESULTS: Clubfoot patients with a relapse show lower total gait quality (GDI*) and lower clinical status defined by the CAP than clubfoot patients without a relapse. Abnormal cFDI* was found in relapse patients, reflected by differences in corresponding variable scores. Moderate relationships were found for the subdomains of the CAP and total gait and foot quality in all clubfoot patients. SIGNIFICANCE: A new total foot score was introduced in this study, which was more relevant for the clubfoot population. The use of this new foot score (cFDI*) besides the GDI*, is recommended to identify gait and foot motion deviations. Along with clinical assessment, this will give an overview of the overall status of the complex, multi-segmental aspects of a (relapsed) clubfoot. The relationships found in this study suggest that clinical assessment might be indicative of a deviation in total gait and foot pattern, therefore hinting towards personalised screening for better treatment decision making.
Assuntos
Pé Torto Equinovaro , Moldes Cirúrgicos , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/terapia , Pé , Marcha , Análise da Marcha , Humanos , Recidiva , Resultado do TratamentoRESUMO
CASE: We present 2 cases in which patients previously treated for congenital talipes equinovarus (CTEV) presented with residual cavovarus deformity and lateral foot pain and were found to have Jones fractures. Both patients were indicated for surgical correction of their residual cavovarus deformity, although neither elected to proceed. These 2 patients were treated conservatively for their fractures with cast immobilization. At the final follow-up, both were clinically and radiographically healed. CONCLUSION: Residual cavovarus foot deformities after the treatment of CTEV are at risk for proximal fifth metatarsal or Jones fractures. Although conservative management may lead to healing of these fractures, the underlying stresses persist after conservative management increasing the risk for recurrent fracture. Correction of the residual deformity should be the main goal.
Assuntos
Pé Torto Equinovaro , Fraturas Ósseas , Ossos do Metatarso , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Fraturas Ósseas/complicações , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Humanos , Ossos do Metatarso/diagnóstico por imagem , Ossos do Metatarso/cirurgiaRESUMO
BACKGROUND: Ankle-foot deformities play a critical role in functional capacity and therefore activities of daily living in stroke patients. AIM: This is the first study to evaluate all foot deformities in stroke patients together. The primary aim of this study is to determine the frequency of ankle-foot deformities in stroke patients. The secondary aim is to investigate the relationships between ankle-foot deformities and ambulation, postural control, balance, spasticity, and activities of daily living. MATERIAL AND METHODS: The Functional Ambulation Classification was used to assess ambulation status, Postural Assessment Scale for Stroke Patients was used to assess postural control and balance. Lower extremity spasticity was evaluated with Modified Ashworth Scale. Activities of daily living were evaluated with Barthel Index. RESULTS: Ankle-foot deformity was detected in 77 (42%) of 184 cases. The incidence of pes equinovarus was 48%, pes equinus was seen in 22%, claw toe in 19.5%, and pes varus in 10.4%. Pes equinovarus and claw toe were seen together in 8 cases. In the group with ankle-foot deformity, the disease duration was longer and the rate of spasticity in the lower extremity was statistically higher (p = 0.29, p = 0.023). There was no difference in Functional Ambulation Classification, Barthel Index, and Postural Assessment Scale for Stroke Patients scores between patients with or without ankle-foot deformity (p = 0.811, 0.321, 0.385). CONCLUSION: It is important to detect ankle-foot deformities in stroke patients. Ankle-foot deformities are associated with spasticity in patients with stroke and are an important factor to be considered when determining the rehabilitation program.
Assuntos
Pé Torto Equinovaro , Síndrome do Dedo do Pé em Martelo , Acidente Vascular Cerebral , Humanos , Tornozelo , Estudos Transversais , Pé Torto Equinovaro/complicações , Síndrome do Dedo do Pé em Martelo/complicações , Atividades Cotidianas , Acidente Vascular Cerebral/complicações , Caminhada , Espasticidade Muscular/etiologiaRESUMO
BACKGROUD: Complete peroneal nerve dysfunction associated with congenital clubfoot is uncommonly reported. Our retrospective study highlights the recognition of clinical presentation and mid-term outcomes of treatment in these patients. METHODS: Eight out of 658 patients undergoing treatment for clubfoot were identified with unilateral complete peroneal nerve dysfunction associated with congenital clubfoot. Three patients presented primarily to our center; 5 were treated elsewhere initially. All patients were treated with Ponseti casts, Achilles tenotomy, and subsequent foot abduction bracing. Diagnosis of complete peroneal nerve dysfunction was confirmed using nerve conduction velocity studies in all patients. After full-time bracing, an insole polythene molded ankle foot orthosis was given. Three patients underwent tibialis posterior transfer to improve foot dorsiflexor power. RESULTS: The mean age at presentation was 1.3 years (range, 1 week-5 years). All patients had prominence of lateral 3 metatarsal heads and dimpling of intermetatarsal spaces. At a mean follow-up of 5.1 years, mean shortening of 1.2 cm in tibia (range, 1-2.5 cm) and mean calf wasting of 4.4 cm were observed. There was no relapse of any clubfoot deformity till the final follow-up. CONCLUSIONS: Prominence of lateral metatarsal heads and dimpling of intermetatarsal spaces should raise early suspicion of peroneal nerve dysfunction. Standard Ponseti protocol is useful in treatment of these patients. Tibialis posterior transfer to dorsum partially restores the ankle dorsiflexion.
Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Tendão do Calcâneo/cirurgia , Moldes Cirúrgicos , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/cirurgia , Humanos , Lactente , Nervo Fibular , Estudos Retrospectivos , Tenotomia , Resultado do TratamentoRESUMO
EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing. The patient is the first male known to be affected and presented with additional features not previously described with EVEN-PLUS syndrome. These features include agenesis of the septum pellucidum, a short chest and sternum, 13 pairs of ribs, a single hemivertebra, laterally displaced nipples, hydronephrosis, unilateral cryptorchidism, unilateral single palmar crease, bilateral clubfoot, and hypotonia. qPCR analysis provides supporting evidence for a nonsense-mediated decay mechanism for the HSPA9 truncating variant. In silico 3D modeling supports the pathogenicity of the c.955C > T (p.L319F) missense variant. The study presented here further describes the syndrome and broadens its mutational and phenotypic spectrum. Our study also lends support to HSPA9 variants as the underlying etiology of EVEN-PLUS syndrome and ultimately provides a better understanding of the molecular basis of the condition.
Assuntos
Proteínas de Choque Térmico HSP70/genética , Proteínas Mitocondriais/genética , Anormalidades Musculoesqueléticas/genética , Mutação de Sentido Incorreto , Septo Pelúcido/patologia , Pé Torto Equinovaro/complicações , Criptorquidismo/complicações , Exoma , Estudos de Associação Genética , Variação Genética , Humanos , Hidronefrose/complicações , Imageamento Tridimensional , Lactente , Cariotipagem , Masculino , Hipotonia Muscular/complicações , Mutação , Fenótipo , RNA Mensageiro/metabolismo , Costelas/anormalidades , Septo Pelúcido/anormalidades , Esterno/anormalidades , Síndrome , Sequenciamento do ExomaRESUMO
RBM10, is an RNA binding protein that is important for development by regulating the expression of multiple genes. RBM10 is on the X chromosome, and nonsense and frameshift RBM10 variants cause TARP syndrome in males. In a 4-year-old male, we identified a novel maternally inherited missense RBM10 variant in the RRM2 RNA binding domain, c.965C>T, p.Pro322Leu. His clinical features included intellectual disability, developmental delay, growth restriction, hypotonia, and craniofacial malformations. These features were much milder than those described in previously reported cases of TARP syndrome. By in vitro assays, we found that the mutant p.Pro322Leu RBM10 protein retained its specific RNA binding capacity, while gaining a low-affinity nonspecific RNA binding. It was normally localized to the nucleus, but its expression level was significantly reduced with a significantly short half-life. These results indicated that the p.Pro322Leu missense variant causes a developmental disorder in humans through a unique loss-of-function mechanism.
Assuntos
Pé Torto Equinovaro/genética , Deficiências do Desenvolvimento/genética , Predisposição Genética para Doença , Cardiopatias Congênitas/genética , Síndrome de Pierre Robin/genética , Proteínas de Ligação a RNA/genética , Pré-Escolar , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/patologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/patologia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/patologia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/patologia , Mutação de Sentido Incorreto/genética , Fenótipo , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/patologia , Sequenciamento do ExomaRESUMO
Congenital clubfoot CTEV is a common congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with CTEV often have other non-CTEV associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with CTEV were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 504 cases with CTEV, representing a prevalence of 13.02 per 10,000, 107 (21.2%) had associated anomalies. There were 31 (6.1%) cases with chromosomal abnormalities, and 21 (4.2%) non-chromosomal recognized dysmorphic conditions including syndromes: 6 arthrogryposis multiplex congenita, 2 22q11.2 microdeletion, and one fetal alcohol syndrome. Fifty-five (10.9%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the central nervous, the urinary, the orofacial, and the musculoskeletal systems were the most common other anomalies in the cases with MCA. The anomalies associated with CTEV could be classified into a recognizable malformation syndrome in 52 of the 107 cases (48.6%) with associated anomalies. This study included special strengths: it is population-based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, one of five cases, emphasizes the need for a screening for other anomalies in cases with CTEV.
Assuntos
Anormalidades Cardiovasculares/genética , Sistema Nervoso Central/anormalidades , Pé Torto Equinovaro/genética , Anormalidades Congênitas/genética , Anormalidades Cardiovasculares/complicações , Anormalidades Cardiovasculares/epidemiologia , Anormalidades Cardiovasculares/patologia , Sistema Nervoso Central/patologia , Aberrações Cromossômicas , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/epidemiologia , Pé Torto Equinovaro/patologia , Anormalidades Congênitas/patologia , Feminino , Humanos , Nascido Vivo/epidemiologia , Nascido Vivo/genética , Masculino , Gravidez , Natimorto/epidemiologia , Natimorto/genética , Bexiga Urinária/anormalidades , Bexiga Urinária/patologiaRESUMO
BACKGROUND: Ankle valgus deformity is associated with conditions such as clubfoot, cerebral palsy, and myelodysplasia. Guided growth strategies using a transphyseal screw provide effective correction of ankle valgus deformity. When correction occurs before skeletal maturity, screw removal is required to prevent overcorrection in the coronal plane. In this study, we reviewed the outcomes of guided growth procedures for correction of ankle valgus and related difficulty with hardware extraction. METHODS: A retrospective review of patients with ankle valgus managed with transphyseal screw placement was performed. Clinical and radiographic data, including the lateral distal tibial angle (LDTA), type of screw placed, and time to correction was recorded. At hardware removal, we reviewed elements associated with difficult extraction defined as requiring the use of specialized screw removal/extraction sets or inability to remove the entirety of the screw. RESULTS: One hundred nineteen patients (189 extremities) with a mean age of 11.7 years at time of screw placement met study inclusion criteria. Following correction of the valgus deformity, hardware removal occurred at an average of 18.4 months after placement of the screw. Preoperatively, the mean LDTA for the entire cohort was 81.3 degrees, and was corrected to a mean LDTA of 91.1 degrees. Complicated hardware removal occurred in 69 (37%) extremities. These 69 extremities had hardware in place an average of 1.8 years compared with an average of 1.4 years in extremities without difficult extraction (P<0.01). Six (9%) screws were unable to be removed in their entirety. Rebound valgus deformity occurred in 5 extremities (3%). CONCLUSIONS: Extraction of transphyseal screws in the correction of ankle valgus can be problematic. Specialized instrumentation was required in approximately one third of cases. Longevity of screw placement may be a factor that affects the ease of extraction. Additional exposure, access to specialized instrumentation, and additional operative time may be required for extraction. LEVEL OF EVIDENCE: Level IV-case series.
Assuntos
Tornozelo , Deformidades Adquiridas do Pé/cirurgia , Procedimentos Ortopédicos , Complicações Pós-Operatórias , Tornozelo/patologia , Tornozelo/cirurgia , Articulação do Tornozelo/fisiopatologia , Articulação do Tornozelo/cirurgia , Parafusos Ósseos , Paralisia Cerebral/complicações , Criança , Pé Torto Equinovaro/complicações , Estudos de Coortes , Feminino , Deformidades Adquiridas do Pé/diagnóstico , Deformidades Adquiridas do Pé/etiologia , Humanos , Masculino , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/instrumentação , Procedimentos Ortopédicos/métodos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Radiografia/métodos , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Patient-Reported Outcomes Measurement Information System (PROMIS) is a well-validated tool used to measure health-related quality of life for children and adolescents with chronic medical conditions. The current study evaluates PROMIS scores in 3 domains for children with Ponseti-treated idiopathic clubfoot. METHODS: This is a retrospective cohort study of 77 children, ages 5 to 16 years, treated by Ponseti protocol for idiopathic clubfoot. Three pediatric PROMIS domains (Mobility, Pain Interference, and Peer Relationships) were administered between April 2017 and June 2018. One-way analysis of variance with Bonferroni post hoc and independent sample t tests were performed to explore differences across PROMIS domain scores by sex, age, initial Dimeglio score, laterality, bracing duration, and whether the child underwent tibialis anterior transfer. RESULTS: In the self-reported group (ages 8 to 16), mean T-scores for all 3 domains in both unilaterally and bilaterally affected groups were within the normal range, with respect to the general reference pediatric population. However, children with unilateral clubfoot had a significantly higher mean Mobility T-score (54.77) than children with bilateral clubfoot (47.81, P=0.005). Children with unilateral clubfoot also had significantly lower mean pain scores (39.16) than their bilateral counterparts (46.56, P=0.005). Children who had braced >36 months had a significantly higher mean Mobility T-score (53.68) than children who braced ≤36 months (46.28, P=0.004).In the proxy group (ages 5 to 7), mean T-scores for all 3 domains in both laterality groups were within the normal range, with respect to the reference population. Children who had braced >36 months had a significantly higher mean Mobility T-score (52.75 vs. 49.15, P=0.014) and lower Pain Interference score (43.04 vs. 49.15, P=0.020) than children who braced ≤36 months. CONCLUSIONS: Children treated by Ponseti protocol for idiopathic clubfoot yielded PROMIS scores for Mobility, Pain Interference, and Peer Relationships domains similar to the reference population. Bracing duration >36 months and unilaterality were associated with less mobility impairment than their counterparts. These findings may help guide parent recommendations. LEVEL OF EVIDENCE: Level III.
Assuntos
Braquetes/estatística & dados numéricos , Pé Torto Equinovaro , Dor , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Adolescente , Criança , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/psicologia , Pé Torto Equinovaro/terapia , Feminino , Humanos , Masculino , Limitação da Mobilidade , Dor/etiologia , Dor/psicologia , Preferência do Paciente , Estudos Retrospectivos , Interação SocialRESUMO
BACKGROUND: The Ponseti method effectively treats idiopathic clubfoot, but its effectiveness in treating the stiffer clubfoot associated with arthrogryposis is less clear. The purpose of this study was to assess the comparative effectiveness of the Ponseti method in 5-year-old children with either idiopathic clubfoot or clubfoot due to arthrogryposis. METHODS: The outcomes of the Ponseti method were retrospectively evaluated in children with idiopathic clubfoot and clubfoot associated with arthrogryposis. The children with clubfoot were seen at our hospital between 2012 and 2019 and were 4.0 to 6.9 years old at the time of their evaluation. Outcomes of the 2 groups of children with clubfoot were assessed using passive range of motion, foot pressure analysis, the Gross Motor Function Measure Dimension-D, and parent report using the Pediatric Outcomes Data Collection Instrument. These results were also compared with the same measures from a group of typically developing children. Surgical and bracing history was also recorded. RESULTS: A total of 117 children were included (89 idiopathic clubfoot and 28 associated with arthrogryposis) with an average age of 4.8±0.8 years. The historical gait analyses of 72 typically developing children were used as a control, with an average age of 5.2±0.8 years. Significant residual equinovarus was seen in both children with idiopathic clubfoot and associated with arthrogryposis according to passive range of motion and foot pressure analysis when compared with normative data. Children with arthrogryposis demonstrated limited transfer and basic mobility, sports functioning, and global functioning while children with idiopathic clubfoot were significantly different from their typically developing peers in only transfer and basic mobility. CONCLUSIONS: Although children with idiopathic clubfoot continue with some level of residual deformity, the Ponseti method is effective in creating a pain-free, highly functional foot. In children with clubfoot associated with arthrogryposis, the Ponseti method is successful in creating a braceable foot that can delay the need for invasive surgical intervention. LEVEL OF EVIDENCE: Level III, Therapeutic Studies-Investigating the Results of Treatment.
Assuntos
Artrogripose , Moldes Cirúrgicos , Pé Torto Equinovaro , Procedimentos Ortopédicos , Tenotomia , Articulação do Tornozelo/fisiopatologia , Artrogripose/complicações , Artrogripose/fisiopatologia , Artrogripose/terapia , Pré-Escolar , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/fisiopatologia , Pé Torto Equinovaro/terapia , Pé Equino/diagnóstico , Pé Equino/etiologia , Feminino , Análise da Marcha , Humanos , Masculino , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/instrumentação , Procedimentos Ortopédicos/métodos , Avaliação de Resultados em Cuidados de Saúde/métodos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Amplitude de Movimento Articular , Recuperação de Função Fisiológica , Estudos Retrospectivos , Tenotomia/efeitos adversos , Tenotomia/métodosRESUMO
OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases. CONCLUSION: This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.
Assuntos
Artrite/complicações , Doenças do Tecido Conjuntivo/complicações , Perda Auditiva Neurossensorial/complicações , Síndrome de Pierre Robin/complicações , Descolamento Retiniano/complicações , Síndrome da Deleção 22q11/complicações , Adolescente , Artrogripose/complicações , Criança , Pré-Escolar , Transtornos Cromossômicos/complicações , Fissura Palatina/complicações , Pé Torto Equinovaro/complicações , Síndrome de Cornélia de Lange/complicações , Síndrome da Retração Ocular/complicações , Feminino , Deformidades Congênitas da Mão/complicações , Cardiopatias Congênitas/complicações , Humanos , Hipoventilação/complicações , Hipoventilação/congênito , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Disostose Mandibulofacial/complicações , Síndrome de Möbius/complicações , Hipotonia Muscular/complicações , Estudos Retrospectivos , Apneia do Sono Tipo Central/complicaçõesAssuntos
Pé Torto Equinovaro/diagnóstico por imagem , Ultrassonografia Pré-Natal , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Artrogripose/complicações , Artrogripose/diagnóstico , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/diagnóstico , Apresentação Pélvica/diagnóstico , Amostra da Vilosidade Coriônica , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/etiologia , Pé Torto Equinovaro/genética , Diagnóstico Diferencial , Encefalocele/complicações , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Análise em Microsséries , Oligo-Hidrâmnio/diagnóstico , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Doenças Renais Policísticas/complicações , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Gravidez , Segundo Trimestre da Gravidez , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genéticaRESUMO
Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). This article describes rare monogenic forms of hypertension, characterized by electrolyte disorders and suppressed renin-aldosterone axis. They represent simple models for the physiology of renal control of sodium levels and plasma volume, thus reaching a high scientific interest. Furthermore, they could explain some features closer to the essential phenotype of hypertension, suggesting a mechanistically driven personalized treatment.
Assuntos
Hiperplasia Suprarrenal Congênita , Artrogripose , Fissura Palatina , Pé Torto Equinovaro , Deformidades Congênitas da Mão , Hipertensão , Síndrome de Liddle , Síndrome de Excesso Aparente de Minerolocorticoides , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/terapia , Artrogripose/complicações , Artrogripose/metabolismo , Artrogripose/terapia , Fissura Palatina/complicações , Fissura Palatina/metabolismo , Fissura Palatina/terapia , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/metabolismo , Pé Torto Equinovaro/terapia , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/metabolismo , Deformidades Congênitas da Mão/terapia , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Hipertensão/metabolismo , Hipertensão/fisiopatologia , Síndrome de Liddle/complicações , Síndrome de Liddle/metabolismo , Síndrome de Liddle/terapia , Síndrome de Excesso Aparente de Minerolocorticoides/complicações , Síndrome de Excesso Aparente de Minerolocorticoides/metabolismo , Síndrome de Excesso Aparente de Minerolocorticoides/terapia , Síndrome de Excesso Aparente de MinerolocorticoidesRESUMO
BACKGROUND: Individuals with clubfoot, treated in infancy with either the Ponseti method or comprehensive clubfoot release, often encounter pain as adults. Multiple studies have characterized residual deformity after Ponseti or surgical correction using physical exam, radiographs and pedobarography; however, the relationship between residual foot deformity and pain is not well defined. The purpose of the current study was 2-fold: (1) to evaluate the relationship between foot morphology and pain for young adults treated as infants for idiopathic clubfoot and (2) to describe and compare pedobarographic measures and outcome measures of pain and morphology among surgically treated, Ponseti treated, and typically developing feet. METHODS: We performed a case-control study of individuals treated for clubfoot at 2 separate institutions with either the Ponseti method or comprehensive clubfoot release between 1983 and 1987. All subjects (24 treated with comprehensive clubfoot release, 18 with Ponseti method, and 48 controls) were evaluated using the International Clubfoot Study Group (ICFSG) morphology scoring, dynamic pedobarography, and foot function index surveys. During pedobarography, we collected the subarch angle and arch index as well as the center of pressure progression (COPP) on all subjects. RESULTS: Foot morphology (ICFSG) scores were highly correlated with foot function index pain scores (r=0.43; P<0.001), although the difference in pain scores between the surgical and Ponseti group did not reach significance. The surgical group exhibited greater subarch angle and arch indexes than the Ponseti group, demonstrating a significant difference in morphology, a flatter foot. Finally, we found more abnormalities in foot progression, decreased COPP in the forefoot and increased COPP in the midfoot and hindfoot, in the surgical group compared with controls. CONCLUSIONS: Measures of foot morphology were correlated with pain among all treated for clubfoot. Compared with Ponseti method, comprehensive surgical release lead to greater long-term foot deformity, flatter feet and greater hindfoot loading time. LEVEL OF EVIDENCE: Level III-Therapeutic.
Assuntos
Moldes Cirúrgicos , Pé Torto Equinovaro/patologia , Pé Torto Equinovaro/terapia , Dor Musculoesquelética/etiologia , Procedimentos Ortopédicos , Adulto , Estudos de Casos e Controles , Pré-Escolar , Pé Torto Equinovaro/complicações , Feminino , Seguimentos , Pé/fisiopatologia , Humanos , Lactente , Recém-Nascido , Masculino , Pressão , Fatores de Tempo , Resultado do Tratamento , Suporte de Carga , Adulto JovemRESUMO
CASE: We present the case of a 15-year-old girl who has a history of Ponseti casting followed by Achilles tenotomies for congenital clubfeet as an infant and subsequently suffered an acute traumatic midsubstance Achilles tendon rupture on the left and midsubstance Achilles tendinosis on the right. CONCLUSIONS: Traumatic pediatric Achilles ruptures are rare. There are no prior reported cases in patients with a history of Achilles tenotomy, despite it being a described potential complication. This case highlights the potential for an Achilles rupture years after tenotomy and presents surgical repair as a satisfactory treatment option for Achilles ruptures in adolescents.