RESUMEN
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic defect in collagen type I, phenotypically characterized by bony fragility and a propensity to high rates of childhood fracture. Fragility fractures in patients with OI have been reported with routine hospital care. In addition, there is a nonzero rate of iatrogenic fracture during orthopaedic surgery directly related to the technical steps of the procedure itself. The rate of this latter has never been explicitly investigated. METHODS: A review of all patients at a single OI referral center was conducted, including all patients with a diagnosis of OI seen between 2013 and 2023, inclusive. All patients who underwent orthopaedic surgery of any kind were reviewed, and clinical and radiographic details of all procedures were extracted. Among the details examined were the OI subtype, surgery details, any implants used, intraoperative and hospital stay complications, modified Clavien-Dindo classification of complications, and ultimate outcome. RESULTS: Eleven of 60 patients experienced an unplanned, iatrogenic intraoperative fracture during orthopaedic surgery (11/60 = 18.3%). This comprised 15 fractures among 356 total orthopaedic surgical episodes (15/356 = 4.2%). All but one fracture occurred on the operative long bone segment, all were a direct result of surgical steps, and 11 of 15 fractures occurred in the femur. Most fractures were secondary to the removal, insertion, or exchange of intramedullary implants in the lower extremity (11 of 15 fractures), most often the femur. Thirteen of 15 injuries were classified as modified Clavien-Dindo II or III, requiring modification of postop rehabilitation, additional treatments, or surgical intervention (87%). Overall, iatrogenic fracture was the most common intraoperative complication experienced in the cohort. CONCLUSIONS: Iatrogenic fracture during orthopaedic surgery for patients with OI is not uncommon. A sizeable minority of patients with OI undergoing orthopaedic surgery will experience unplanned fractures, most commonly in the femur, and care is altered in most instances. The risk of intraoperative fracture can be discussed with families of children with OI as part of informed consent and shared decision-making. LEVEL OF EVIDENCE: Level IV-retrospective cohort series.
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AIM: To expand upon previous validation of the Gait Outcomes Assessment List (GOAL) questionnaire in individuals with cerebral palsy (CP), to rank items by importance, and to summarize written-in (free text) goals. METHOD: For this cross-sectional study, the parent-version 5.0 of the GOAL was completed by 310 consecutive caregivers of 310 individuals aged 3 to 25 years with CP (189 males, 121 females; mean [SD] age: 10y [4y 2mo]; Gross Motor Function Classification System [GMFCS] levels I-IV) concurrent with a gait analysis. Distribution properties and validity were quantified using questionnaires, kinematics, and oxygen consumption. Items classified as at least 'difficult' to perform and 'very important' to improve were considered caregiver priorities and rank ordered. Free text goals were categorized. Results were summarized for everyone and by GMFCS level. RESULTS: Most scores were normally distributed. Validity was acceptable, with concurrent greater than construct validity. Among all 310 caregivers, fatigue was the highest priority, followed by gait pattern and appearance items. The rank of priorities varied by GMFCS level. Common free text goals included toileting independently as well as improved fine motor and ball sport skills. INTERPRETATION: The GOAL is a valid tool that can help prioritize goals across GMFCS levels I to IV. Identifying the top goals may improve shared decision-making and prioritize research for this sample.
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Actividades Cotidianas , Cuidadores , Parálisis Cerebral/diagnóstico , Trastornos Neurológicos de la Marcha/diagnóstico , Índice de Severidad de la Enfermedad , Adolescente , Adulto , Parálisis Cerebral/complicaciones , Parálisis Cerebral/fisiopatología , Niño , Preescolar , Estudios Transversales , Ejercicio Físico/fisiología , Fatiga/diagnóstico , Fatiga/etiología , Fatiga/fisiopatología , Femenino , Trastornos Neurológicos de la Marcha/etiología , Trastornos Neurológicos de la Marcha/fisiopatología , Humanos , Masculino , Dolor/diagnóstico , Dolor/etiología , Dolor/fisiopatología , Medición de Resultados Informados por el Paciente , Reproducibilidad de los Resultados , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Limb lengthening by distraction osteogenesis can be performed with motorized internal devices, but intramedullary implants risk avascular necrosis of the femoral head in young children. A method of internal limb lengthening using a motorized expandable plate has been developed and preliminary results are presented. METHODS: Seven skeletally immature patients (ages 2.7 to 9.7 y) with congenital femoral deficiencies underwent femoral lengthening with the use of a magnetic expandable plate. Surgical details, lengthening parameters, Limb Lengthening and Reconstruction Society-Angular deformity, Infection, Motion index, and complications were reviewed and classified according to the modified Clavien-Dindo system. RESULTS: An average lengthening was 4.1 cm (range, 3.3 to 4.4 cm) comprising 18% of initial femoral segment length (range, 14% to 21%). The average lengthening phase was 50.2 days (range, 40 to 57 d) and weight-bearing was initiated at an average of 13 weeks from surgery (range, 8 to 18 wk). Limb deformities and length discrepancies were of moderate complexity, with an Limb Lengthening and Reconstruction Society-Angular deformity, Infection, Motion score of 6.57 (range, 6 to 7). Complication rates were comparable to previously reported methods of femoral lengthening. One patient underwent reoperation for patellar instability and 1 patient experienced radiographic hip subluxation which was observed. Small magnitude varus was observed in regenerate in 3 of 7 cases, none requiring treatment. Preoperative planning consisted of careful localization of the corticotomy site, acute deformity correction at the lengthening site in 3 cases, and implant orientation. CONCLUSIONS: Limb lengthening with motorized internal plates is feasible for young children with congenital femoral deficiency for whom intramedullary lengthening is unsafe or if external fixation is to be avoided. However, the fundamental principles of distraction osteogenesis and risks of lengthening for congenital discrepancies remain unchanged. Specific considerations herein include: careful planning of implant length and positioning, adjacent joint protection with adjunctive means, and mitigating deformity of the regenerate during distraction. LEVEL OF EVIDENCE: Level IV, retrospective case series.
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Alargamiento Óseo , Inestabilidad de la Articulación , Osteogénesis por Distracción , Articulación Patelofemoral , Alargamiento Óseo/métodos , Clavos Ortopédicos , Niño , Preescolar , Fémur/anomalías , Fémur/cirugía , Humanos , Diferencia de Longitud de las Piernas/cirugía , Osteogénesis por Distracción/métodos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: There are reports of spinal cord injury (SCI) occurring after lower extremity (LE) surgery in children with mucopolysaccharidoses (MPS). Intraoperative neurological monitoring (IONM) has been adopted in some centers to assess real-time spinal cord function during these procedures. The aim of this investigation was to review 3 specialty centers' experiences with MPS patients undergoing LE surgery. We report how IONM affected care and the details of spinal cord injuries in these patients. METHODS: All pediatric MPS patients who underwent LE surgery between 2001 and 2018 were reviewed at 3 children's orthopaedic specialty centers. Demographic and surgical details were reviewed. Estimated blood loss (EBL), surgical time, positioning, use of IONM, and changes in management as a result of IONM were recorded. Details of any spinal cord injuries were examined in detail. RESULTS: During the study period, 92 patients with MPS underwent 252 LE surgeries. IONM was used in 83 of 252 (32.9%) surgeries, and intraoperative care was altered in 17 of 83 (20.5%) cases, including serial repositioning (n=7), aggressive blood pressure management (n=6), and abortion of procedures (n=8). IONM was utilized in cases with larger EBL (279 vs. 130 mL) and longer operative time (274 vs. 175 min) compared with procedures without IONM. Three patients without IONM sustained complete thoracic SCI postoperatively, all from cord infarction in the upper thoracic region. These 3 cases were characterized by long surgical time (328±41 min) and substantial EBL (533±416 mL or 30.5% of total blood volume; range, 11% to 50%). No LE surgeries accompanied by IONM experienced SCI. CONCLUSIONS: Patients with MPS undergoing LE orthopaedic surgery may be at risk for SCI, particularly if the procedures are long or are expected to have large EBL. One hypothesis for the etiology of SCI in this setting is hypoperfusion of the upper thoracic spinal cord due to prolonged intraoperative or postoperative hypotension. IONM during these procedures may mitigate the risk of SCI by identifying real-time changes in spinal cord function during surgery, inciting a change in the surgical plan. LEVEL OF EVIDENCE: Level III-retrospective comparative series.
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Monitorización Neurofisiológica Intraoperatoria/estadística & datos numéricos , Extremidad Inferior/cirugía , Mucopolisacaridosis/cirugía , Procedimientos Ortopédicos/efectos adversos , Traumatismos de la Médula Espinal/etiología , Niño , Femenino , Humanos , Masculino , Procedimientos Ortopédicos/estadística & datos numéricos , Estudios Retrospectivos , Traumatismos del Sistema NerviosoRESUMEN
BACKGROUND: Lengthening of the humerus has traditionally been accomplished by the use of external fixation. Intramedullary motorized lengthening nails are now frequently used for lower limb lengthening, and this technology is slowly being adopted for use in the humerus. METHODS: A retrospective, single-surgeon experience of pediatric humeral lengthenings was performed. The time period surveyed included use of external fixation (EF) for lengthening, and the use of a motorized nail (MN) for lengthening. The primary outcome measures were lengthening magnitude achieved, duration of lengthening, frequency and type of complications encountered, or further procedures required, during each lengthening. RESULTS: From 1999 to 2018, 13 humeral lengthenings were performed in 9 patients. Six lengthenings were performed using the MN technique and 7 using the EF technique. The average absolute lengthening achieved was 8.5±1.3 cm in the EF group and 6.6±2.3 cm in the MN group. The duration of lengthening averaged 114 days in the MN group and 103 days in the EF group. The average duration of EF time was 215 days. Two patients underwent an initial EF lengthening of a humerus and then underwent a second lengthening using the MN technique. Two of 6 (33%) MN lengthenings and 3 of 7 (43%) EF lengthenings experienced complications during treatment. Two patients in the MN group underwent planned reversal and redeployment of their motorized nails to attain the planned lengthening magnitude. CONCLUSIONS: Humeral lengthening using motorized intramedullary nails is a safe technique that mitigates some of the complications of EF including pin site infection. It is well tolerated by patients. For lengthenings of a large magnitude, reversal and reuse of MN can be considered.
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Alargamiento Óseo/métodos , Clavos Ortopédicos , Fijadores Externos , Fijación Intramedular de Fracturas/métodos , Húmero/cirugía , Adolescente , Niño , Femenino , Humanos , Diferencia de Longitud de las Piernas/cirugía , Masculino , Estudios Retrospectivos , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
BACKGROUND: Distal radius fractures (DRFs) are the most common pediatric orthopaedic fracture, of which 20% are displaced injuries. Displaced metaphyseal DRFs are often treated with sedated or anesthetized reduction. The necessity of reduction treatment of displaced fractures to achieve good clinical outcomes is unclear. The purpose of this investigation was to determine the treatment preferences for DRFs among pediatric orthopaedic surgeons and to determine whether they were uncertain enough in their decisions to randomize treatment. METHODS: Twenty-eight DRF scenarios in children aged 3 to 10 years were constructed in an electronic survey to represent a spectrum of age, angulation in sagittal and coronal planes, and displacement. The survey was disseminated to the full membership of the Pediatric Orthopaedic Society of North America (POSNA). Respondents could select either a treatment of (a) attempt anatomic reduction with sedation or (b) nonsedated immobilization. Respondents also denoted whether they would be willing to randomize the treatment of each injury scenario. Patient, fracture, and surgeon characteristics were analyzed to develop predictors of treatment recommendations and willingness to randomize treatment. RESULTS: A total of 319 surgeons responded (23% of POSNA membership). Respondents were a characteristic representation of POSNA membership (well distributed by years in practice, 78% academic, 91% whose work is >80% pediatrics, and 84% work with residents). Predictors of sedated reduction were complete displacement [odds ratio (OR), 9.23; 95% confidence interval (CI), 2.27-37.51; P=0.002] and coronal angulation (per 1-degree increase, OR, 1.09; 95% CI, 1.02-1.17; P=0.016), Willingness to randomize was inversely related to larger coronal plane angulation (per 1-degree increase, OR, 0.96; 95% CI, 0.93-0.99; P=0.01). A majority of surgeons were willing to randomize 7 of the 8 scenarios involving complete displacement and shortening, and >64% of surgeons were willing to randomize 5 of these 8 scenarios. CONCLUSIONS: POSNA members recommend sedated reduction of DRFs primarily based on existence of complete displacement. Although most completely displaced DRFs would undergo reduction, most surgeons would be willing to randomize the treatment of these injuries. This suggests that most POSNA members do not know whether their recommended treatment for displaced DRFs is necessary or correct. This survey establishes the groundwork for a randomized, prospective trial comparing nonsedated immobilization with sedated/anesthetized reduction in the treatment of displaced pediatric DRFs. LEVELS OF EVIDENCE: Level II-survey study.
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Cirujanos Ortopédicos/estadística & datos numéricos , Ortopedia/normas , Pediatría/estadística & datos numéricos , Fracturas del Radio/terapia , Niño , Preescolar , Femenino , Humanos , Masculino , América del Norte , Pautas de la Práctica en Medicina/estadística & datos numéricos , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
BACKGROUND: Limb lengthening by distraction osteogenesis is now achievable via motorized intramedullary devices, mitigating many complications of lengthening by external fixation. In young patients, antegrade intramedullary nailing of the femur risks avascular necrosis of the femoral head. A method of extramedullary placement of a motorized expandable intramedullary nail has been employed by the senior author to safely achieve femoral lengthening without the use of an external fixator in young patients. METHODS: Eleven skeletally immature patients with lower limb length discrepancy were reviewed who underwent extramedullary placement of a magnetic, expandable intramedullary nail for lengthening of the femur. Surgical details, lengthening parameters, and complications were reviewed and classified according to the modified Clavien-Dindo Classification. RESULTS: Average lengthening was 32.3 mm (range: 27 to 40 mm) comprising an average 14.8% of femoral segment length. The average lengthening duration was 6.3 weeks, and average full weight-bearing began at 12.6 weeks. All but 1 patient underwent early removal of the device at an average of 4.5 months, and 5 had immediate plating of the femur. Complications rates were comparable to other methods of femoral lengthening, including varus or procurvatum through the regenerate, and unplanned reoperation in 3 of 11 cases. Preoperative considerations included careful planning of implant length due to short femoral segments and protection of the knee joint from contracture or iatrogenic instability. CONCLUSIONS: Extramedullary placement of a magnetic expandable intramedullary lengthening nail can achieve lengthening of the femur without the use of external fixation. Considerations with this technique include careful planning of implant length relative to trochanteric-physeal distance, protection against knee subluxation during lengthening, and mitigating deformity of the regenerate. Off-label, extramedullary use of these devices can be considered to decrease the burdens of external fixation in young children. The technique begs the advent of future all-internal technology specifically designed for safe limb lengthening in this age group. LEVEL OF EVIDENCE: Level IV-retrospective case series.
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Clavos Ortopédicos , Fémur/cirugía , Diferencia de Longitud de las Piernas/cirugía , Osteogénesis por Distracción/métodos , Niño , Preescolar , Femenino , Fijación Intramedular de Fracturas/efectos adversos , Fijación Intramedular de Fracturas/instrumentación , Humanos , Imanes , Masculino , Osteogénesis por Distracción/efectos adversos , Osteogénesis por Distracción/instrumentación , Complicaciones Posoperatorias/etiología , Reoperación , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Limb deformities in ambulatory children with cerebral palsy (CP) are common. The natural history of lower extremity deformities is variable and the impact on gait is managed with many treatment modalities. Effective interventions must consider the underlying pathophysiology, patient-specific goals, and incorporate objective outcome assessment. Evaluation and treatment include observation, tone management multilevel orthopaedic surgery to address muscle contractures and bony deformities, and the use of gait analysis for preoperative and postoperative assessment. METHODS: A PubMed search of the orthopaedic literature for studies published between January 2016 and February 2019 was performed. Eligible abstracts included the use of 3-dimensional instrumented gait analysis in the evaluation and treatment of the lower extremities in ambulatory children with CP. Seven hundred twenty abstracts were reviewed, with 84 papers identified as eligible, of which 45 full manuscripts were included for detailed review. RESULTS: The review summarized recent advances regarding the treatment of torsional alignment, knee deformities and clinical gait evaluation with visual assessment tools compared with instrumented gait analysis. CONCLUSIONS: Gait analysis of ambulatory children with CP remains essential to evaluation and surgical decision-making. Promising results have been reported with the goal of maintaining or reaching a higher level of function and increased endurance. LEVEL OF EVIDENCE: Level IV-literature review.
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Parálisis Cerebral/fisiopatología , Análisis de la Marcha/tendencias , Trastornos Neurológicos de la Marcha/rehabilitación , Adolescente , Instituciones de Atención Ambulatoria , Niño , Femenino , Marcha/fisiología , Humanos , Rodilla/fisiopatología , Extremidad Inferior/fisiopatología , Masculino , Procedimientos Ortopédicos , Ortopedia , Evaluación de Resultado en la Atención de Salud , Modalidades de FisioterapiaRESUMEN
BACKGROUND: Isolated pediatric femur fractures have historically been treated at local hospitals. Pediatric referral patterns have changed in recent years, diverting patients to high volume centers. The purpose of this investigation was to assess the treatment location of isolated pediatric femur fractures and concomitant trends in length of stay and cost of treatment. METHODS: A cross-sectional analysis of surgical admissions for femoral shaft fracture was performed using the 2000 to 2012 Kids' Inpatient Database. The primary outcome was hospital location and teaching status. Secondary outcomes included the length of stay and mean hospital charges. Polytrauma patients were excluded. Data were weighted within each study year to produce national estimates. RESULTS: A total of 35,205 pediatric femoral fracture cases met the inclusion criteria. There was a significant shift in the treatment location over time. In 2000, 60.1% of fractures were treated at urban, teaching hospitals increasing to 81.8% in 2012 (P<0.001). Mean length of stay for all hospitals decreased from 2.59 to 1.91 days (P<0.001). Inflation-adjusted total charges increased during the study from $9499 in 2000 to $25,499 in 2012 per episode of treatment (P<0.001). Total charges per hospitalization were â¼$8000 greater at urban, teaching hospitals in 2012. CONCLUSIONS: Treatment of isolated pediatric femoral fractures is regionalizing to urban, teaching hospitals. Length of stay has decreased across all institutions. However, the cost of treatment is significantly greater at urban institutions relative to rural hospitals. This trend does not consider patient outcomes but the observed pattern appears to have financial implications. LEVEL OF EVIDENCE: Level III-case series, database study.
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Fracturas del Fémur , Hospitales Rurales/economía , Hospitales de Enseñanza/economía , Innovación Organizacional/economía , Niño , Análisis Costo-Beneficio , Estudios Transversales , Bases de Datos Factuales/estadística & datos numéricos , Femenino , Fracturas del Fémur/economía , Fracturas del Fémur/epidemiología , Fracturas del Fémur/cirugía , Hospitalización/economía , Hospitalización/estadística & datos numéricos , Humanos , Masculino , Estados UnidosRESUMEN
Structural aberrations involving more than two breakpoints on two or more chromosomes are known as complex chromosomal rearrangements (CCRs). They can reduce fertility through gametogenesis arrest developed due to disrupted chromosomal pairing in the pachytene stage. We present a familial case of two infertile brothers (with azoospermia and cryptozoospermia) and their mother, carriers of an exceptional type of CCR involving chromosomes 1 and 7 and three breakpoints. The aim was to identify whether meiotic disruption was caused by CCR and/or genomic mutations. Additionally, we performed a literature survey for male CCR carriers with reproductive failures. The characterization of the CCR chromosomes and potential genomic aberrations was performed using: G-banding using trypsin and Giemsa staining (GTG banding), fluorescent in situ hybridization (FISH) (including multicolor FISH (mFISH) and bacterial artificial chromosome (BAC)-FISH), and genome-wide array comparative genomic hybridization (aCGH). The CCR description was established as: der(1)(1qter->1q42.3::1p21->1q42.3::7p14.3->7pter), der(7)(1pter->1p2 1::7p14.3->7qter). aCGH revealed three rare genes variants: ASMT, GARNL3, and SESTD1, which were ruled out due to unlikely biological functions. The aCGH analysis of three breakpoint CCR regions did not reveal copy number variations (CNVs) with biologically plausible genes. Synaptonemal complex evaluation (brother-1; spermatocytes II/oligobiopsy; the silver staining technique) showed incomplete conjugation of the chromosomes. Associations between CCR and the sex chromosomes (by FISH) were not found. A meiotic segregation pattern (brother-2; ejaculated spermatozoa; FISH) revealed 29.21% genetically normal/balanced spermatozoa. The aCGH analysis could not detect smaller intergenic CNVs of few kb or smaller (indels of single exons or few nucleotides). Since chromosomal aberrations frequently do not affect the phenotype of the carrier, in contrast to the negative influence on spermatogenesis, there is an obvious need for genomic sequencing to investigate the point mutations that may be responsible for the differences between the azoospermic and cryptozoospermic phenotypes observed in a family. Progeny from the same parents provide a unique opportunity to discover a novel genomic background of male infertility.
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Azoospermia/genética , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 7/genética , Reordenamiento Génico , Oligospermia/genética , Translocación Genética , Adulto , Azoospermia/patología , Hibridación Genómica Comparativa , Femenino , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Oligospermia/patología , LinajeRESUMEN
During development and homeostasis, cells integrate multiple signals originating either from neighboring cells or systemically. In turn, responding cells can produce signals that act in an autocrine, paracrine, or endocrine manner. Although the nature of the signals and pathways used in cell-cell communication are well characterized, we lack, in most cases, an integrative view of signaling describing the spatial and temporal interactions between pathways (e.g., whether the signals are processed sequentially or concomitantly when two pathways are required for a specific outcome). To address the extent of cross-talk between the major metazoan signaling pathways, we characterized immediate transcriptional responses to either single- or multiple pathway stimulations in homogeneous Drosophila cell lines. Our study, focusing on seven core pathways, epidermal growth factor receptor (EGFR), bone morphogenetic protein (BMP), Jun kinase (JNK), JAK/STAT, Notch, Insulin, and Wnt, revealed that many ligands and receptors are primary targets of signaling pathways, highlighting that transcriptional regulation of genes encoding pathway components is a major level of signaling cross-talk. In addition, we found that ligands and receptors can integrate multiple pathway activities and adjust their transcriptional responses accordingly.
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Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Regulación de la Expresión Génica/genética , Transducción de Señal/genética , Animales , Línea Celular , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/citología , Drosophila melanogaster/efectos de los fármacos , Insulina/farmacología , Lipopolisacáridos/farmacología , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Análisis de Secuencia de ARN/métodos , Transducción de Señal/efectos de los fármacosRESUMEN
BACKGROUND: Fixed knee flexion deformity is common in children with neuromuscular disorders. Anterior guided growth (AGG) of the distal femur can achieve gradual correction in patients who are skeletally immature. Little outcome data are available on this procedure. METHODS: This is a retrospective matched cohort study. Forty-two knees (26 patients) underwent AGG surgery at our institution between 2007 and 2017. All patients underwent instrumented 3-dimensional gait analysis (3DGA). A nonsurgical control group of 49 knees (43 patients) was selected that matched for age, severity of preoperative knee contracture, and 3DGA parameters. Clinical, radiographic, and 3DGA outcomes were assessed and compared. RESULTS: Average preoperative knee flexion deformity in AGG group was 13±8 degrees. Following AGG, deformity improved by 8±7 degrees (P<0.001) as measured radiographically and by 7±7 degrees (P<0.001) as measured on physical examination. Average rate of correction was 0.7±0.6 degrees per month or 8±8 degrees per year. The 3DGA parameters such as minimum stance phase knee flexion and knee flexion at initial contact were also significantly improved following AGG. In contrast, flexion deformity as measured radiographically worsened by 3±3 degrees (P=0.002) in the control group. Twelve knees (29%) had failure of correction. Predictors of failure included older age, lower level of function, and greater severity of preoperative deformity. The age at time of surgery and the anteroposterior position of plate fixation relative to the distal femoral physis were associated with rate of correction. CONCLUSIONS: In children with neuromuscular disorders, AGG of the distal femur is effective in improving degree of fixed knee flexion deformity as well as objective gait parameters. A significant portion of knees experience inadequate correction. Addressing factors associated with correction failure (ie, age and plate placement) may improve the procedure's success. LEVEL OF EVIDENCE: Level III-case control study.
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Contractura , Fémur/diagnóstico por imagen , Deformidades Adquiridas del Pie , Articulación de la Rodilla , Osteogénesis por Distracción/métodos , Adolescente , Factores de Edad , Placas Óseas , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Contractura/etiología , Contractura/prevención & control , Femenino , Deformidades Adquiridas del Pie/etiología , Deformidades Adquiridas del Pie/prevención & control , Deformidades Adquiridas del Pie/cirugía , Marcha , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/fisiopatología , Masculino , Enfermedades Neuromusculares/complicaciones , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: The genetic basis of nonobstructive azoospermia is unknown in the majority of infertile men. METHODS: We performed array comparative genomic hybridization testing in blood samples obtained from 15 patients with azoospermia, and we performed mutation screening by means of direct Sanger sequencing of the testis-expressed 11 gene (TEX11) open reading frame in blood and semen samples obtained from 289 patients with azoospermia and 384 controls. RESULTS: We identified a 99-kb hemizygous loss on chromosome Xq13.2 that involved three TEX11 exons. This loss, which was identical in 2 patients with azoospermia, predicts a deletion of 79 amino acids within the meiosis-specific sporulation domain SPO22. Our subsequent mutation screening showed five novel TEX11 mutations: three splicing mutations and two missense mutations. These mutations, which occurred in 7 of 289 men with azoospermia (2.4%), were absent in 384 controls with normal sperm concentrations (P=0.003). Notably, five of those TEX11 mutations were detected in 33 patients (15%) with azoospermia who received a diagnosis of azoospermia with meiotic arrest. Meiotic arrest in these patients resembled the phenotype of Tex11-deficient male mice. Immunohistochemical analysis showed specific cytoplasmic TEX11 expression in late spermatocytes, as well as in round and elongated spermatids, in normal human testes. In contrast, testes of patients who had azoospermia with TEX11 mutations had meiotic arrest and lacked TEX11 expression. CONCLUSIONS: In our study, hemizygous TEX11 mutations were a common cause of meiotic arrest and azoospermia in infertile men. (Funded by the National Institutes of Health and others.).
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Azoospermia/genética , Proteínas Cromosómicas no Histona/genética , Genes Ligados a X , Infertilidad Masculina/genética , Meiosis , Mutación , Animales , Proteínas de Ciclo Celular , Proteínas Cromosómicas no Histona/deficiencia , Proteínas Cromosómicas no Histona/metabolismo , Hemicigoto , Humanos , Macaca , Masculino , Ratones , Hibridación de Ácido Nucleico , Análisis de Secuencia por Matrices de Oligonucleótidos , Reacción en Cadena de la Polimerasa , Testículo/metabolismo , Testículo/patologíaRESUMEN
PURPOSE OF REVIEW: The review provides an update on the treatment of hypertonia in cerebral palsy, including physical management, pharmacotherapy, neurosurgical, and orthopedic procedures. RECENT FINDINGS: Serial casting potentiates the effect of Botulinum neurotoxin A injections for spasticity. Deep brain stimulation, intraventricular baclofen, and ventral and dorsal rhizotomy are emerging tools for the treatment of dystonia and/or mixed tone. The long-term results of selective dorsal rhizotomy and the timing of orthopedic surgery represent recent advances in the surgical management of hypertonia. SUMMARY: Management of hypertonia in cerebral palsy targets the functional goals of the patient and caregiver. Treatment options are conceptualized as surgical or nonsurgical, focal or generalized, and reversible or irreversible. The role of pharmacologic therapies is to improve function and mitigate adverse effects. Further investigation, including clinical trials, is required to determine the role of deep brain stimulation, intraventricular baclofen, orthopedic procedures for dystonia, and rhizotomy.
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Parálisis Cerebral/fisiopatología , Hipertonía Muscular/terapia , Parálisis Cerebral/terapia , Terapia Combinada , Humanos , Hipertonía Muscular/diagnóstico , Hipertonía Muscular/etiología , Resultado del TratamientoRESUMEN
The clinical care of children with physical disabilities is a major priority for paediatricians and paediatric orthopaedic surgeons. Cerebral palsy (CP) is the prototypical condition and remains the most common cause of physical disability in developed countries. The incidence is approximately 2 per 1000 live births, translating to between 600 and 700 new children per annum in Australia, with approximately 34 000 children and adults currently living with CP. This figure is predicted to rise inexorably over the next 20 years. The care of children with physical disabilities, including those with CP, is usually coordinated by paediatricians, general practitioners and allied health teams including physiotherapists, with input from paediatric orthopaedic surgeons when appropriate. The emphasis in care for children with CP has moved from 'reactive' to 'proactive'. In the past, children are often referred when symptomatic, for example when a hip dislocation had occurred and became painful. The emphasis now is on coordinated, multidisciplinary care in which musculoskeletal manifestations of disability are identified by screening programmes. Systematic screening, especially when population-based and linked to a register, avoids children getting 'lost in the system'. Early and more effective interventions may be offered for the prevention of contractures, dislocation of the hip and spinal deformities. In this review, we will focus on the assessment of gait in children with physical disabilities, and monitoring for hip and spine deformity.
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Parálisis Cerebral/complicaciones , Niños con Discapacidad , Ataxia de la Marcha/diagnóstico , Luxación de la Cadera/diagnóstico , Derivación y Consulta , Australia , Parálisis Cerebral/cirugía , Niño , Niños con Discapacidad/clasificación , Ataxia de la Marcha/etiología , Ataxia de la Marcha/cirugía , Luxación de la Cadera/etiología , Luxación de la Cadera/cirugía , HumanosRESUMEN
BACKGROUND: Limb lengthening over a percutaneous plate can be used during pediatric distraction osteogenesis to decrease the time of external fixation. METHODS: A retrospective, consecutive 2-surgeon experience of pediatric femoral and tibial lengthenings with a plate-assisted lengthening (PAL) technique was performed. The plate was placed at the time of index corticotomy. The primary outcome measures of external fixation index, consolidation index, and complications were assessed for each lengthening. RESULTS: From 2005 to 2012, 38 lengthenings (23 femur, 15 tibia) in 30 patients were performed by a PAL technique. All patients experienced successful distraction and consolidation. The average achieved lengthening was 3.80±0.98 cm (range, 2.2 to 6.4) with an average consolidation index of 27 days/cm and a mean external fixation index of 13.1±4.29 days/cm (range, 7.8 to 30). Patients returned to full weight-bearing activity after an average of 98.3±28.5 days. There were an average of 1.08±1.05 total complications and 0.39±0.75 severe complications per lengthening. Complications were encountered most commonly during femoral lengthening, including procurvatum and varus deformity through the regenerate. These deformities were usually corrected by frame adjustment before removal. CONCLUSIONS: PAL is a safe technique that minimizes time of external fixation, accelerates rehabilitation and weight-bearing, and can be successfully used on the femur or tibia. The most common complications are angular deformities of the regenerate that can be treated with adjustment before or at the time of plate locking. LEVEL OF EVIDENCE: Level IV-retrospective case series.
Asunto(s)
Placas Óseas , Fémur/cirugía , Diferencia de Longitud de las Piernas/cirugía , Osteogénesis por Distracción/métodos , Tibia/cirugía , Adolescente , Niño , Preescolar , Fijadores Externos/efectos adversos , Femenino , Fémur/diagnóstico por imagen , Humanos , Masculino , Radiografía , Proyectos de Investigación , Estudios Retrospectivos , Estadísticas no Paramétricas , Resultado del TratamientoRESUMEN
BACKGROUND: Gadolinium-enhanced perfusion MRI (pMRI) after closed reduction/spica casting for developmental dysplasia of the hip (DDH) has been suggested as a potential means to identify and avoid avascular necrosis (AVN). To date, however, no study has evaluated the effectiveness of pMRI in clinical practice or compared it with other approaches (such as postreduction CT scan) to show a difference in the proportion of AVN. QUESTIONS/PURPOSES: (1) Can a pMRI-based protocol be used immediately post closed reduction to minimize the risk that AVN would develop? (2) What are the overall hip-related outcomes after closed reduction/spica casting using this protocol? (3) Do any patient-specific factors at the time of closed reduction predict future AVN? METHODS: This was a retrospective cohort study at a large tertiary care children's hospital. Between 2009 and 2013 we treated 43 patients with closed reduction/spica casting for DDH, of whom 33 (77%) received a postreduction pMRI. All patients were indicated for pMRI per treating surgeon preference. A convenience sample totaling 25 hips in 22 patients treated with pMRI was then established using the following exclusion criteria: DDH of neuromuscular/syndromic origin, failed initial closed reduction, less than 1 year of clinical and radiographic followup, and subsequent open reduction. Next, the 40 patients treated with closed reduction between 2004 and 2009 were screened until the chronologically most recent 25 hips (after applying the previously mentioned exclusion criteria) were identified in 21 of the first 34 patients (62%) screened. Although termed the CT group, specific postreduction imaging was not a defined inclusion criterion in this group with the majority (21 of 25 [84%]) receiving postreduction CT and the remainder (four of 25 [16%]) receiving only postreduction radiographs. All hips with globally decreased femoral head perfusion on postreduction pMRI were treated with immediate cast removal followed by repeat closed reduction or open reduction, as per surgeon preference, with two of 33 (6%) requiring such further interventions. Salter criteria were then used to determine the proportion of AVN on radiographs at 1-year and final followup. Secondary outcomes including residual dysplasia and the need for further corrective surgery were ascertained through radiographic and retrospective chart review. RESULTS: At 1-year followup there was no difference in the proportion of AVN in the historical CT group as compared with the pMRI group (six of 25 [24%] versus one of 25 [4%]; odds ratio [OR], 7.6; 95% confidence interval [CI], 0.8-363; p = 0.098). However, by final followup there was a statistically higher proportion of AVN in the CT group (seven of 25 [28%] versus one of 25 [4%]; OR, 9.3; 95% CI, 1.0-438; p = 0.049). No patient with normal perfusion on postreduction pMRI went on to develop AVN. In those pMRI patients in whom a successful reduction was initially obtained, two of 25 (8%) went on to require further corrective surgery and one of 25 (4%) had a redislocation event. With the numbers available, no patient-specific factors at the time of closed reduction were predictive of future AVN, including the patient's age/weight, the presence of an ossific nucleus, history of previous bracing treatment, or the abduction angle in spica cast. CONCLUSIONS: A pMRI-based protocol immediately after closed reduction/spica casting may decrease the risk of AVN by helping the surgeon to evaluate femoral head vascularity. Although preliminary in nature, this study could serve to guide further investigation into the potential role of pMRI for the treatment of patients who require closed reduction/spica casting for DDH. LEVEL OF EVIDENCE: Level III, therapeutic study.
Asunto(s)
Moldes Quirúrgicos , Necrosis de la Cabeza Femoral/prevención & control , Cabeza Femoral/irrigación sanguínea , Luxación Congénita de la Cadera/cirugía , Articulación de la Cadera/cirugía , Imagen por Resonancia Magnética , Procedimientos Ortopédicos/efectos adversos , Imagen de Perfusión/métodos , Femenino , Cabeza Femoral/diagnóstico por imagen , Necrosis de la Cabeza Femoral/diagnóstico , Necrosis de la Cabeza Femoral/epidemiología , Luxación Congénita de la Cadera/diagnóstico , Luxación Congénita de la Cadera/fisiopatología , Articulación de la Cadera/anomalías , Articulación de la Cadera/fisiopatología , Hospitales Pediátricos , Humanos , Incidencia , Lactante , Masculino , Oportunidad Relativa , Philadelphia/epidemiología , Valor Predictivo de las Pruebas , Flujo Sanguíneo Regional , Estudios Retrospectivos , Factores de Riesgo , Centros de Atención Terciaria , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
PURPOSE: Male infertility is a complex health condition. To our knowledge there are no molecular biomarkers of male infertility. Sperm RNA is a potential biomarker for detecting sperm abnormalities and viability at infertility clinics. However, RNA use is hindered by its inconsistent quantity, quality, multiple cell types in semen and condensed sperm structure. MATERIALS AND METHODS: We tested the usefulness of high quality RNA isolated from mature sperm and whole semen by our protocol, which reduces RNA degradation by maintaining semen and protocol components at 37 C and decreasing processing time. We isolated RNA from 83 whole semen samples, 18 samples of motile sperm prepared by the swim-up protocol and 18 of sperm prepared by the standard Percoll gradient method. RESULTS: Electrophoretic and spectral analysis of RNA revealed high quality 18S and 28S rRNAs in 71 of 83 whole semen samples (86%) and 15 of 18 mature sperm swim-up samples (83%). However, high quality RNA was isolated from only 7 of 18 Percoll gradient sperm samples (39%). Interestingly quantitative reverse transcriptase-polymerase chain reaction analysis of 4 somatic and 10 germ cell markers showed that whole semen and swim-up samples had similar RNA profiles. RNA sequencing revealed that most encoded proteins were involved in mature sperm function, regulation of DNA replication, transcription, translation, cell cycle and embryo development. CONCLUSIONS: We believe that semen and sperm specific RNAs are highly informative biomarkers for germ cell stages and somatic cell contribution. Therefore, these RNAs could be valuable diagnostic indicators of sperm survival, fertilization and early embryogenesis, and could serve as a predictor of the in vitro fertilization prognosis.
Asunto(s)
Infertilidad Masculina/diagnóstico , ARN/análisis , ARN/aislamiento & purificación , Semen/química , Espermatozoides/química , Fertilización In Vitro , Humanos , MasculinoRESUMEN
BACKGROUND: The terms "femoral anteversion" and "femoral torsion" have often been used interchangeably in the orthopaedic literature, yet they represent distinct anatomical entities. Anteversion refers to anterior tilt of the femoral neck, whereas torsion describes rotation of the femoral shaft. Together, these and other transverse plane differences describe what may be considered rotational deformities of the femur. Assessment of femoral rotation is now routinely measured by multiple axial CT methods. The most widely used radiographic technique (in which only two CT-derived axes are made, one through the femoral neck and one at the distal femoral condyles) may not accurately quantify proximal femoral anatomy nor allow identification of the anatomic locus of rotation. QUESTIONS/PURPOSES: (1) What CT methodology (a two-axis CT-derived technique, a three-axis technique adding an intertrochanteric axis--the "Kim method," or a volumetric three-dimensional reconstruction of the proximal femur) most accurately quantifies transverse plane femoral morphology; (2) localizes those deformities; and (3) is most reproducible across different observers? METHODS: We constructed a high-definition femoral sawbones model in which osteotomies were performed at either the intertrochanteric region or femoral shaft. Transverse plane deformity was randomly introduced and CT-derived rotational profiles were constructed using three different CT methods. Accuracy and consistency of measurements of femoral rotation were calculated using p values and Fisher's exact test and intraclass correlation coefficients (ICCs). RESULTS: All three CT methodologies accurately quantified overall transverse plane rotation (mean differences 0.69° ± 3.88°, 0.69° ± 3.88°, and -1.09° ± 4.44° for the two-plane, Kim, and volumetric methods, respectively). However, use of a single neck and single distal femoral axis does not reliably identify the anatomic locus of rotation, whereas the Kim and volumetric methods do (p < 0.0001). All three methods were highly reproducible between observers (ICCs of 0.9569, 0.9569, and 0.9359 for the traditional two-plane, Kim, and volumetric methods, respectively). CONCLUSIONS: Only the Kim and volumetric methods can identify the anatomic location of transverse plane rotation and we recommend using one of the two techniques. Accurate anatomic localization of transverse plane rotation enables using precise anatomic terminology ("femoral torsion" versus "femoral [ante]version"). CLINICAL RELEVANCE: Current descriptions and treatment of femoral rotational deformities do not discriminate the location of rotation. The transverse plane femoral rotation requires a precise definition based on its anatomic location to maintain consistent communication between clinicians, because version of the neck and torsion of the shaft may have different treatment.