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1.
Artigo em Inglês | MEDLINE | ID: mdl-37684057

RESUMO

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).


Assuntos
Paralisia Cerebral , Deficiência Intelectual , Malformações do Sistema Nervoso , Canais de Cátion TRPM , Humanos , Paralisia Cerebral/genética , Deficiência Intelectual/genética , Mutação de Sentido Incorreto/genética , Fenótipo , Canais de Cátion TRPM/genética
2.
J Am Acad Orthop Surg ; 31(6): 274-282, 2023 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-36800541

RESUMO

The Black pediatric population is one that has been historically underserved and continues to have unmet needs. Factors including lack of diversity in orthopaedic studies and in historical standards, such as bone age, may inadvertently lead to inferior care. There are certain conditions in this population for which the practicing orthopaedic surgeon should have a higher degree of suspicion, including slipped capital femoral epiphysis, Blount disease, and postaxial polydactyly. Systemic diseases with higher rates in this population have orthopaedic manifestations, including sickle cell disease, vitamin D deficiency, and obesity. Racial discrepancies in access to prenatal care can have orthopaedic consequences for babies, especially cerebral palsy and myelodysplasia. Racial discrepancy exists in evaluation for nonaccidental trauma. Increased awareness of these issues better prepares practitioners to provide equitable care.


Assuntos
Doenças do Desenvolvimento Ósseo , Ortopedia , Escorregamento das Epífises Proximais do Fêmur , Deficiência de Vitamina D , Humanos , Criança , Escorregamento das Epífises Proximais do Fêmur/diagnóstico , Escorregamento das Epífises Proximais do Fêmur/epidemiologia , Escorregamento das Epífises Proximais do Fêmur/cirurgia , Obesidade
3.
J Child Orthop ; 16(6): 454-460, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36483645

RESUMO

Purpose: To establish the rate of avascular necrosis after hip reconstruction surgery in children with cerebral palsy and to identify risk factors that influence the development of avascular necrosis in this population. Methods: An institutional review board-approved retrospective review was conducted on children with cerebral palsy who underwent hip containment surgery at a single institution. Radiographs were evaluated at three time points. The Reimer's migration percentage, neck shaft angle, epiphyseal shaft angle, acetabular index, center edge angle, and acetabular angle were measured. The presence of avascular necrosis was evaluated and graded by the Bucholz/Ogden and the Kalamchi/MacEwen classification systems. Multivariate logistic regression was performed to identify risk factors associated with the development of avascular necrosis. Results: A total of 154 children with cerebral palsy underwent hip containment surgery on 223 hips. Twenty-nine children (18.8%) underwent both pelvic and femoral procedures; 36 children (23.4%) had only femoral procedures; 47 children (30.5%) had femoral and soft tissue; and 42 children (27.3%) had pelvic, femoral, and soft tissue procedures. Using the Bucholz and Ogden or the Kalamchi classifications, the rate of avascular necrosis was 24.7% (38/154). Of the variables evaluated, preoperative Reimers was found to be significant predictors of avascular necrosis. The rate of avascular necrosis was 26.7% for Gross Motor Functional Classification System level III, 24.1% for Gross Motor Functional Classification System level IV, and 27.3% for Gross Motor Functional Classification System level V. Conclusion: The overall rate of avascular necrosis in children undergoing hip containment surgery was 26.7%. Together, age at surgery, open reduction, previous surgery, preoperative Reimers, and estimated blood loss contributed to the development of postoperative avascular necrosis; however, only preoperative Reimers significantly contributed to the development of avascular necrosis in children with cerebral palsy undergoing hip containment procedures.

4.
BMJ Open ; 12(10): e060591, 2022 10 28.
Artigo em Inglês | MEDLINE | ID: mdl-36307157

RESUMO

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC. METHODS AND ANALYSIS: Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted. ETHICS AND DISSEMINATION: Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.


Assuntos
Artrogripose , Humanos , Artrogripose/epidemiologia , Artrogripose/genética , Artrogripose/terapia , Estudos Transversais , Estudos Retrospectivos , Sistema de Registros , Genômica
5.
J Pediatr Orthop ; 42(8): e878-e881, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35797178

RESUMO

BACKGROUND: Idiopathic toe walking (ITW) can result in early contact with the health care system and be distressing for patients and their families. The natural history of ITW is poorly characterized. Deciding how and when to intervene can be difficult.Patient-reported outcomes are utilized in the clinical setting to assess patient factors and indications that may better inform treatment plans. Patient-Reported Outcomes Measurement Information System (PROMIS) is an instrument designed to collect patient-reported outcomes. Minimum clinically important differences in PROMIS metrics have been established to facilitate clinical relevance and utility of these metrics. The purpose of this study was to characterize the patient perspective of ITW by utilizing the PROMIS scores. METHODS: Retrospective chart review was performed to identify children aged 5 to 17 with a diagnosis of ITW treated at a single tertiary care center between 2017 and 2020. Inclusion criteria were a diagnosis of ITW and completion of a PROMIS questionnaire. Exclusion criteria were neurologic disease, autism, and previous surgical treatment. Demographic, physical exam, treatment, and available motion analysis data were collected. PROMIS scores for the following domains were available: Mobility, Peer Relationships, and Pain Interference. RESULTS: Forty-five children were enrolled. Seventy-three percent of PROMIS scores were patient reported while the remainder were parent reported. PROMIS score means for the cohort by domain were Mobility: 45.2±8.2 ( P <0.000); Peer Relationships: 46.4±11.6 ( P =0.047); and Pain Interference: 47.4±9.5 ( P =0.67). Motion analysis data, available for 11 children, noted age-matched gait velocity negatively correlated ( rs =-0.652, P =0.03) with Peer Relationships. No correlations were found between other aspects of gait, body mass index, or limitations in dorsiflexion and PROMIS domains. Parents reported lower Mobility scores than children did. There were no other significant differences between patient-reported and parent-reported PROMIS scores. PROMIS scores did not differ significantly between those <10 years and those ≥10 years. CONCLUSION: In this cohort of 45 otherwise healthy children without other neurologic diagnoses, there are both clinically and statistically significant differences in PROMIS means between our cohort and the healthy age-matched population. These differences manifested in worse peer relationships and mobility scores. LEVEL OF EVIDENCE: Level IV.


Assuntos
Sistemas de Informação , Medidas de Resultados Relatados pelo Paciente , Criança , Humanos , Dor , Estudos Retrospectivos , Dedos do Pé
6.
J Pediatr Orthop ; 42(8): e889-e894, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35818169

RESUMO

BACKGROUND: There is sparse literature demonstrating the relationship between lower limb pediatric idiopathic rotational malalignment (IRM) and patient-reported outcomes measurement information system (PROMIS) scores. Our goal is to determine and quantify the amount that IRM deformities, as measured with the 3D gait analysis, affect childrens' pain interference, mobility, and peer relationship PROMIS domains. Secondary outcomes include investigating the potential relationships between IRM and various subgroups (Pediatric Outcomes Data Collection Instrument (PODCI), gender, Body Mass Index (BMI), femur Versus tibia). We also examine whether the PROMIS domains correlate with PODCI in this population. METHODS: This study was a retrospective cohort, single institution, and consecutively recruited cases series. We identified 47 children over a 3-year period who were evaluated at the motion analysis center at our tertiary care hospital, with increased torsion of the femur or tibia. After exclusions, 25 children with IRM, documented PROMIS data and gait analysis were considered. RESULTS: Femoral malrotation had a significant relationship with female gender ( P =0.001) and increased BMI ( P <0.001). Femoral malrotation had a correlation with PROMIS pain interference ( P =0.016), whereas tibial rotation did not achieve significance ( P =0.084). In the ANOVA regression analysis, there was a strong prediction of the PROMIS mobility domain when both malrotation and pain interference were present ( P =0.007). There were Pearson Correlations of PROMIS and PODCI domains for Mobility Versus Sports ( P =0.007) and Pain Interference Versus Comfort/Pain ( P =0.004), respectively. CONCLUSION: The evident relationship between lower limb rotational malalignment and PROMIS scores signifies the likelihood for gait and pain disturbance. This in turn could show us that children are likely to be more debilitated and thus may benefit from timely correction. We aim to conduct this as a multicentre trial to confirm our findings. LEVEL OF EVIDENCE: Level IV.


Assuntos
Extremidade Inferior , Medidas de Resultados Relatados pelo Paciente , Criança , Feminino , Humanos , Sistemas de Informação , Dor , Estudos Retrospectivos
7.
J Family Med Prim Care ; 11(3): 833-838, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35495833

RESUMO

Queries of youth orthopedic sports injuries from the U.S. National Electronic Surveillance System, a database from the Consumer Product Safety Commission, demonstrate decreased orthopedic injuries related to team sports during the COVID-19 pandemic, indicative of reduced sports participation. Multiple articles have shown that COVID-19 had a marked effect on the physical and psychological wellbeing of the youth. The lockdown resulted in a cessation in school attendance and sports activities, especially team sports. Though increased emphasis has been placed on children infected by COVID-19, less attention has been given to healthy children. Numerous articles discussed the physical and psychological benefits for the youth returning to physical activity and sports; however, few have addressed detraining and deconditioning concerns postpandemic. This article discusses a safe return to team sports for the youth experiencing physical and psychological changes related to the pandemic. Orthopedic injuries are anticipated to increase as restrictions are relaxed. A multidisciplinary team presents a review of common youth sports orthopedic injuries, a discussion of psychological issues youths have experienced during COVID and why sports participation is beneficial for youth, and a risk assessment for pain and limited range of motion for youth returning to sports. The intent of this article is to increase awareness of the physical and psychological changes experienced by youth due to their inability to participate in team sports during the pandemic. Family medicine and primary care providers need to recognize the increased risks for injury and proactively encourage the youth to return to sports in a safe manner.

8.
JBJS Case Connect ; 11(4)2021 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-34807880

RESUMO

CASE: We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p.Ser40Leu) variant in exon 1 of IFITM5 and a c.676C>A (Pro226Thr) variant in exon 5 of CREB3L1. CONCLUSION: This unusual skeletal presentation was in the setting of a rare IFITM5 mutation and represents a unique case of severe OI.


Assuntos
Osteogênese Imperfeita , Humanos , Proteínas de Membrana/genética , Mutação , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genética , Fenótipo
9.
J Pediatr Orthop ; 39(5): e397-e401, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30608305

RESUMO

BACKGROUND: Patient-reported Outcome Measures (PROMs) quantifying health-related quality of life are widely used to evaluate illness and the impact of health care interventions. The questionnaires must be comprehensible by the persons completing them. Literacy Surveys in the United States reveal nearly half of the US adult population have a literacy level below the 8th grade. Recommendations are that health-related written material directed at adults should be at a reading level of grade 6 or below. Reading level for materials aimed at minor patients should be no higher than their grade level. Our aim was to determine the readability of pediatric orthopaedic PROMs as determined by a validated literacy tool. METHODS: A literature search was conducted to identify PROMs cited in pediatric orthopaedics. In total, 79 PROMs were identified. Only text-based PROMs that were developed in English for pediatrics and have published evidence of validation were included, leaving 35 outcome scores for analysis. Text was extracted and analyzed using the Flesch Reading Ease Score (FRES). RESULTS: Of 35 PROMs: 15 (43%) were general, 12 (34%) spine, 5 (14%) lower, and 3 (9%) upper extremity. Ten (29%) were designed to be completed by the caregiver, whereas 25 (71%) by the patient. Ten PROMs intended for completion by a parent had an FRES readability of 8th to 10th grade level with only 2 of 10 corresponding to that would be understood by the average adult. Of the 25 PROMs intended for completion by pediatric patients, only 4 (16%) had a FRES corresponding with the age group intended to complete them. CONCLUSIONS: The majority of PROMs are written at a level of complexity higher than likely to be understood by the persons intended to complete them. This is of significance, given that researchers and practitioners alike rely on data from PROMs in drawing conclusions about the impact of orthopaedic conditions and their treatments on health-related quality of life. Analysis of easily comprehended PROMs will aid in the design of future scores to maximize their utility in research and clinical practice. LEVEL OF EVIDENCE: Level II-decision analysis study.


Assuntos
Compreensão , Letramento em Saúde/normas , Ortopedia , Medidas de Resultados Relatados pelo Paciente , Leitura , Inquéritos e Questionários/normas , Adulto , Escolaridade , Humanos , Estados Unidos
10.
AORN J ; 108(5): 516-531, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30376177

RESUMO

Cerebral palsy (CP) is a common motor disability that may be congenital or acquired. Children with CP often have gait, balance, and posture abnormalities, some of which may be severe enough to interfere with safe ambulation or other activities of daily living. Nonsurgical and surgical interventions are part of the management plan for children with CP. Historically, surgeons addressed gait deviations individually and sequentially with single-level surgeries. However, computerized motion analysis and advances in orthopedic internal fixation devices have improved the outcomes for patients undergoing single-event multilevel surgery. This article provides perioperative RNs with a basic understanding of movement disorders that can be corrected with single-event multilevel surgery, the role of computerized motion analysis in making treatment decisions for ambulatory pediatric orthopedic patients with CP, and various treatment options for the movement disorders of children with CP.


Assuntos
Paralisia Cerebral/cirurgia , Transtornos Neurológicos da Marcha/cirurgia , Procedimentos Ortopédicos , Paralisia Cerebral/fisiopatologia , Criança , Feminino , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Masculino , Planejamento de Assistência ao Paciente , Resultado do Tratamento
11.
Hawaii J Med Public Health ; 77(9): 215-219, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30221075

RESUMO

The Maori of New Zealand have been identified as a high-risk population for slipped capital femoral epiphysis (SCFE). This study assessed whether the burden of disease from SCFE in the American Territory of American Samoa is similar to that identified in the Maori. This was a retrospective review of children from American Samoa treated for SCFE at a tertiary care pediatric hospital between 2005-2014. Demographic, clinical, and radiographic information was collected. All patients were followed for at least one year after surgery and prophylactically pinned hips were not included. Data for determining incidence was obtained from the United States Census Bureau. Between 2005-2014, 55 American Samoan youth were treated for 73 SCFE. The incidence in the "at-risk" population 5-14 years of age was 53.1 per 100,000. Patients had a mean BMI of 29.5 (19.4-46.4) and mean weight of 76.7 kg (45.9-139 kg). Southwick angle was a mean 40.6°+/- 20.4° (6-83°). Overall, 82.2% of hips were treated with in-situ cannulated screw fixation. At a minimum one-year after initial surgery, 22 hips (30.1%) required major surgery including intertrochanteric osteotomy, osteochondroplasty, or total hip replacement. The incidence of SCFE in American Samoa is extremely high, 53.1 per 100,000 of "at-risk" population 5-14 years old. The mean weight and BMI in SCFE patients from American Samoa is substantially higher than previously published reports. Furthermore, morbidity from SCFE in this population is substantial with 30.1% requiring major surgery either at the time of physeal stabilization or in subsequent years.


Assuntos
Escorregamento das Epífises Proximais do Fêmur/diagnóstico , Adolescente , Samoa Americana/etnologia , Índice de Massa Corporal , Criança , Feminino , Havaí/epidemiologia , Humanos , Masculino , Obesidade/complicações , Obesidade/epidemiologia , Radiografia/métodos , Estudos Retrospectivos , Fatores de Risco , Escorregamento das Epífises Proximais do Fêmur/epidemiologia , Escorregamento das Epífises Proximais do Fêmur/etnologia
12.
J Pediatr Orthop ; 38(5): e238-e244, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29489736

RESUMO

INTRODUCTION: The opioid epidemic in the United States has reached crisis proportions. Urgent response is needed. Hydrocodone in combination with acetaminophen is the most prescribed drug in the United States. The most common source of opioids available for misuse is the unused portions of postoperative prescriptions. Among high school seniors, 80% of those who reported nonmedical use of prescription opioids previously had legitimate prescriptions but recreationally used leftover doses. Roughly one-quarter of patients do not take any of their postoperatively prescribed opioids and the remainder take one-third to two-thirds of the prescribed doses. METHODS: A summary of the literature is presented beginning from historical perspective to current status and pertinent strategies in dealing with this complicated problem. This review includes data from an electronic survey of the members of the Pediatric Orthopaedic Society of North America (POSNA) with regard to the prescriptions they would provide for 7 treatment scenarios. RESULTS: Strategies for the preoperative, intraoperative, and postoperative phases of management of pain as well as strategies for education, research, and advocacy are presented. The Pediatric Orthopaedic Society of North America survey yielded 264 respondents. The 3 most commonly used opioid medications were hydrocodone, oxycodone, and acetaminophen with codeine, in that order, for most of the scenarios. The time period covered by postoperative prescriptions varied considerably. CONCLUSIONS: The magnitude of this problem is overwhelming. Education of care providers, patients and families, standardization of narcotic prescribing practices which incorporate patient characteristics, and appropriate plans for disposal of unused narcotics are immediate concepts to consider in correcting this problem. Long-term issues to tackle will be changing patient a family expectations, legislation, and obtaining additional resources directed towards this issue.


Assuntos
Analgésicos Opioides/uso terapêutico , Ortopedia , Dor/tratamento farmacológico , Criança , Humanos , América do Norte , Ortopedia/legislação & jurisprudência , Ortopedia/métodos , Ortopedia/organização & administração , Ortopedia/tendências
13.
J Pediatr Orthop B ; 26(2): 101-107, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27632641

RESUMO

The aim of this study was to describe the design and baseline characteristics of participants enrolled in the prospective randomized-controlled Clubfoot Foot Abduction Brace Length of Treatment Study (FAB24). Foot abduction bracing is currently the standard of care for preventing clubfoot relapse. Current recommendations include full-time bracing for the first 3 months and then 8-12 h a day for 4 years; however, the optimal length of bracing is not known. The FAB24 trial is a clinical randomized study to determine the effectiveness of 2- versus 4-year foot abduction bracing. Participant enrollment for FAB24 was conducted at eight sites in North America and included enrollment and randomization of 139 participants with isolated clubfoot. This clinical trial will generate evidence-based data that will inform and improve patient care.


Assuntos
Braquetes , Pé Torto Equinovaro/terapia , Órtoses do Pé , Moldes Cirúrgicos , Criança , Pré-Escolar , Medicina Baseada em Evidências , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Cooperação do Paciente , Estudos Prospectivos , Recidiva , Fatores de Risco , Prevenção Secundária , Fatores de Tempo , Resultado do Tratamento
14.
J Health Organ Manag ; 30(4): 530-40, 2016 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-27296876

RESUMO

Purpose - The purpose of this paper is to determine whether there were differences in clinical encounter time between patients who speak English and those who require an interpretation service in an ethnically diverse pediatric clinic. Design/methodology/approach - Encounter time with patients requiring interpretation was compared to encounter time with patients who spoke English. The sample consisted of 310 encounters at a pediatric orthopedic clinic where patients spoke over 18 primary languages. Data were analyzed using ANOVA to compare four types of encounters. Findings - Approximately 12 percent (n=38) required interpretation and encounters requiring interpretation took 30 percent (nine minutes) longer than those that did not, p < 0.01(25 vs 16 minutes). Furthermore, this difference was mainly among new patients: Approximately, 53 percent increase in time for new patient encounters requiring interpretation (36 vs 23 minutes) while only 25 percent increase in encounter time for established patients (20 vs 16 minutes) was detected. Research limitations/implications - Preventing problems due to language barriers requires time for interpretation which places demands on staff resources and presents clinical challenges. However, long-term benefits of quality health care outweigh the costs associated with interpretation service. Originality/value - To the knowledge, this is the first study to investigate actual encounter time differences in a pediatric clinical setting. The authors found that clinical encounters requiring interpretation took approximately nine minutes longer in general and four minutes longer for established patients. These findings could give much needed information for hospital administrators to allocate appropriate amounts of time and resources to care for those who need interpretation services. However, they also indicate a broader concern of the reduction of clinical encounter time for overall health care system in the country that might need further investigation.


Assuntos
Etnicidade , Ortopedia , Relações Médico-Paciente , Tradução , Instituições de Assistência Ambulatorial , Humanos , Estudos Prospectivos , Qualidade da Assistência à Saúde , Fatores de Tempo
15.
J Pediatr Orthop B ; 25(2): 138-41, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26451692

RESUMO

Isolated navicular-medial cuneiform tarsal coalition is a rare condition. Very few case reports exist, with limited treatment recommendations. We present a case of an 11-year-old with bilateral isolated osseous navicular-medial cuneiform tarsal coalition. The patient was treated with bilateral coalition excision and soft tissue interposition, with excellent results at 2 years of follow-up. The current case is unusual in being an osseous coalition rather than the more commonly seen cartilaginous or fibrous condition. In addition, this case is uncommon as being in a patient of European rather than Asian descent.


Assuntos
Dor/etiologia , Sinostose/diagnóstico , Ossos do Tarso/anormalidades , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Radiografia , Sinostose/cirurgia , Ossos do Tarso/diagnóstico por imagem , Ossos do Tarso/patologia , Ossos do Tarso/cirurgia
16.
J Pediatr Orthop ; 36(1): 48-55, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25730290

RESUMO

BACKGROUND: Lengthening of the lower limb is a complex procedure in which pain management and complications such as pin-site infections and muscle contractures impact the family and affect the child's quality of life. As a result, the paralytic and antinociceptive actions of neurotoxins may be indicated in managing these complications; however, few studies have explored ways to improve outcomes after lengthenings. The objective of this study was to evaluate the safety and efficacy of botulinum toxin A (BTX-A) in children undergoing lower limb lengthenings and deformity correction. METHODS: Participants with a congenital or acquired deformity of the lower extremity requiring surgery to one limb were randomized to receiving either BTX-A as a single dose of 10 units per kilogram body weight, or an equivalent volume of saline solution. Pain, medication, quality of life, and physical function were assessed at different time-points. Adverse events were recorded in all participants. T test and χ tests were used to compare potential differences across both groups. RESULTS: Mean age of the 125 participants was 12.5 years (range, 5 to 21 y), and lengthenings averaged 4.2 cm. Maximum pain scores on day 1 postoperatively were lower in the BTX-A group (P=0.03) than in the placebo group, and remained significant favoring botox when stratifying by location of lengthening (femur vs. tibia). Clinical benefits for BTX-A were found for 3 quality of life domains at mid-distraction and end-distraction. When stratifying according to location of lengthening, there were significantly fewer pin-site infections in the tibia favoring botox (P=0.03). The amount of adverse events and bone healing indices were no different in both groups. CONCLUSIONS: The clinical differences in quality of life, the lower pain on the first postoperative day, and the lower number of pin-site infections in the tibia favoring BTX-A support its use as an adjunctive treatment to the lengthening process. The detailed analyses of pain patterns help inform families on the pain expectations during lower limb lengthenings. The amount of adverse events were no different in both groups, and bone healing rates were similar, indicating that the use of BTX-A in children undergoing limb lengthening and deformity correction is safe. LEVEL OF EVIDENCE: Level I.


Assuntos
Alongamento Ósseo/métodos , Toxinas Botulínicas Tipo A/administração & dosagem , Desigualdade de Membros Inferiores/terapia , Deformidades Congênitas das Extremidades Inferiores/terapia , Osteogênese por Distração/métodos , Inibidores da Liberação da Acetilcolina/administração & dosagem , Adolescente , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Fêmur/cirurgia , Seguimentos , Humanos , Injeções Intramusculares , Masculino , Fármacos Neuromusculares/administração & dosagem , Estudos Prospectivos , Qualidade de Vida , Tíbia/cirurgia , Resultado do Tratamento , Adulto Jovem
17.
Hum Mol Genet ; 22(1): 1-17, 2013 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-22949511

RESUMO

Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutations in FKBP10, which encodes the 65 kDa prolyl cis-trans isomerase, FKBP65, in 38 members of 21 families with OI. These include 10 families from the Samoan Islands who share a founder mutation. Of the mutations, three are missense; the remainder either introduce premature termination codons or create frameshifts both of which result in mRNA instability. In four families missense mutations result in loss of most of the protein. The clinical effects of these mutations are short stature, a high incidence of joint contractures at birth and progressive scoliosis and fractures, but there is remarkable variability in phenotype even within families. The loss of the activity of FKBP65 has several effects: type I procollagen secretion is slightly delayed, the stabilization of the intact trimer is incomplete and there is diminished hydroxylation of the telopeptide lysyl residues involved in intermolecular cross-link formation in bone. The phenotype overlaps with that seen with mutations in PLOD2 (Bruck syndrome II), which encodes LH2, the enzyme that hydroxylates the telopeptide lysyl residues. These findings define a set of genes, FKBP10, PLOD2 and SERPINH1, that act during procollagen maturation to contribute to molecular stability and post-translational modification of type I procollagen, without which bone mass and quality are abnormal and fractures and contractures result.


Assuntos
Artrogripose/genética , Colágeno Tipo I/metabolismo , Genes Recessivos , Lisina/metabolismo , Mutação , Osteogênese Imperfeita/genética , Proteínas de Ligação a Tacrolimo/genética , Feminino , Humanos , Hidroxilação , Masculino , Processamento de Proteína Pós-Traducional
18.
J Pediatr Orthop ; 32(3): 232-40, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22411326

RESUMO

BACKGROUND: Humeral osteotomies for cubitus varus have a notoriously high complication rate. Pitfalls of this difficult procedure are highlighted. METHODS: A 50-year experience of 68 consecutive surgeries was reviewed. Factors such as surgical approach and fixation technique were compared for complication incidence and type. RESULTS: Seventeen patients (25%) had 23 (34%) clinically remarkable complications. Nine postoperative nerve palsies occurred in 8 patients. Loss of reduction requiring revision or manipulation was seen in 3 patients. The following complications were noted in 2 patients each: nonunion, loss of flexion, lateral prominence, and unsatisfactory scar. Growth arrest, osteomyelitis, and under-correction requiring revision each occurred once. A lateral, triceps-sparing approach was associated with an overall prevalence of complications of 24% (5 of 21) equivalent to the posterior, triceps splitting approach of 24% (10 of 42). An olecranon osteotomy was used in 2 patients both with complications. No nerve injuries occurred in patients who underwent a lateral approach, whereas nerve palsies occurred in 14% (6 of 42) of the patients where a posterior approach was used. An olecranon osteotomy was used in 2 patients with nerve injury occurring in both. A medial approach in 2 patients and a combined medial-lateral approach in 1 patient were used with no complications. Plate and screw fixation was implemented in 29 cases with complications occurring in 6 of them; pin fixation, in 30 cases, 7 of which had complications. There was a higher incidence of under-correction requiring additional surgery with plate fixation (1 of 29) compared with pin fixation which had no under correction but had loss of fixation in 2 of 30. The average correction obtained was similar in the group with complications (32 degrees) versus those without (27 degrees). CONCLUSIONS: Supracondylar humeral osteotomy is a technically demanding procedure fraught with complications. Plate fixation and pin fixation techniques resulted in similar complication rates, but the surgical approach used appeared to make a difference. The posterior, triceps splitting, approach resulted in a high incidence of nerve palsies versus none with the lateral, triceps-sparing approach. LEVEL OF EVIDENCE: This is a retrospective case series, Level IV.


Assuntos
Articulação do Cotovelo/cirurgia , Fixação de Fratura/métodos , Deformidades Articulares Adquiridas/cirurgia , Osteotomia/métodos , Adolescente , Pinos Ortopédicos , Placas Ósseas , Parafusos Ósseos , Criança , Pré-Escolar , Articulação do Cotovelo/anormalidades , Feminino , Seguimentos , Fixação de Fratura/instrumentação , Humanos , Fraturas do Úmero/complicações , Úmero/cirurgia , Deformidades Articulares Adquiridas/patologia , Masculino , Osteotomia/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
19.
J Pediatr Orthop ; 31(1 Suppl): S81-7, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21173624

RESUMO

Fixation of the scoliotic spine can be achieved through the use of hooks and wires. These "tried and true" forms of fixation are discussed less commonly in the current era of focus on pedicle screw fixation. Sublaminar wires are still commonly used for neuromuscular scoliosis, in unusual curves, and at the apices of moderate curves. With careful attention to the technique, sublaminar wires can be safe and versatile. Hook fixation is generally expedient and safe. Both types of fixation are considerably less expensive than pedicle screws. Technical pearls and pitfalls are reviewed.


Assuntos
Procedimentos Ortopédicos/métodos , Escoliose/cirurgia , Fusão Vertebral/métodos , Vértebras Torácicas/cirurgia , Adolescente , Parafusos Ósseos , Fios Ortopédicos , Humanos , Procedimentos Ortopédicos/efeitos adversos , Procedimentos Ortopédicos/instrumentação , Fusão Vertebral/instrumentação , Resultado do Tratamento
20.
J Pediatr Orthop ; 29(5): 427-34, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19568011

RESUMO

BACKGROUND: The Ilizarov technique is commonly used for lengthening and deformity corrections of the lower limbs in children. Postoperative pain can be significant, affecting quality of life and functional mobility, and often requiring prolonged medication use. Several studies have investigated the antinociceptive actions of botulinum toxin type A (BtX-A), yet evidence for its use in this population is limited. The objectives were to (1) establish the feasibility of a randomized clinical trial in children undergoing limb lengthening or deformity correction and (2) provide preliminary evidence of the beneficial effects of BtX-A in this population. METHODS: Fifty-two patients with a mean age of 13.7 years (range, 5 to 21 y) were randomized to receive either BtX-A or an equivalent volume of sterile saline solution (placebo group), as a single dose during the surgical procedure. Pain, medication use, quality of life, and functional mobility outcomes were assessed in all patients. Adverse events were reported for all patients and classified as minor or major. RESULTS: Differences between groups did not reach statistical significance; however, pain at mid-distraction was found to be slightly lower in the BtX-A group, as compared with the placebo group. Patients in the BtX-A group used less parenteral pain medication in the first 4 days after the surgery, had higher quality of life scores at 3 of the 5 time points assessed, and slightly higher functional mobility scores. All adverse events were expected complications of the lengthening process. No event was considered to be a serious adverse event related to the BtX-A injection itself. There was a trend toward fewer major adverse events in the BtX-A group. CONCLUSIONS: This pilot study established the feasibility of a randomized controlled trial design for in this population. Its findings indicate that BtX-A injections appear to be safe and effective for reducing pain and improving the quality of life and functional mobility of children undergoing lengthening or deformity corrections of the lower limbs. A larger-scale study is currently underway to confirm these preliminary findings.


Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Técnica de Ilizarov/efeitos adversos , Fármacos Neuromusculares/uso terapêutico , Dor Pós-Operatória/prevenção & controle , Adolescente , Toxinas Botulínicas Tipo A/efeitos adversos , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Desigualdade de Membros Inferiores/cirurgia , Extremidade Inferior/patologia , Extremidade Inferior/cirurgia , Deformidades Congênitas das Extremidades Inferiores/cirurgia , Masculino , Fármacos Neuromusculares/efeitos adversos , Dor Pós-Operatória/etiologia , Projetos Piloto , Estudos Prospectivos , Qualidade de Vida , Adulto Jovem
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