The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm ...syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS--whether or not established correctly--can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.
Background:
Tibial tuberosity fracture (TTF) is an uncommon injury occurring mostly in adolescents. The association between race and TTF has not been investigated. We aimed to determine whether there ...is an association between race and hospital admission for pediatric TTF and to evaluate previously determined risk factors for TTF using a large sample.
Methods:
This was a cross-sectional analysis of the Agency for Healthcare Research and Quality/Healthcare Cost and Utilization Project 2016 Kids’ Inpatient Database (KID). We compared admissions for TTF to admissions for all other diagnoses. Because forearm fracture has not been found to be associated with race, univariate and multivariate analyses comparing admissions for TTF to admissions for forearm fracture were also performed. Sample weights were used to preserve national estimates.
Results:
Of 692 patients admitted for TTF in 2016, 93.2% were male. Factors associated with TTF admission compared with other admission diagnoses on multivariate analysis included male sex (adjusted odds ratio (aOR) 17.67, confidence interval (CI) 12.25-25.47), age 13 to15 (aOR 10.33, CI 5.67-18.82, reference: age 8-12), and black (aOR 8.04, CI 3.91-16.49) and Hispanic (aOR 2.69, 95% CI 1.30-5.55) races/ethnicities (reference: Caucasian). Compared with forearm fracture admission, black race had an aOR of 22.05 (CI 10.08-48.21) for TTF admission on multivariate analysis. The effect of race on TTF admission also varied significantly with age, with 12 years carrying the strongest association of black race with TTF admission.
Conclusion:
Black race is a previously unreported, strong independent risk factor for TTF. Male sex and age 13 to 15 are also strong risk factors for TTF, making this a highly selective fracture.
Level of Evidence:
Prognostic Level III.
BACKGROUND:Early-onset scoliosis is a heterogeneous condition, with highly variable manifestations and natural history. No standardized classification system exists to describe and group patients, to ...guide optimal care, or to prognosticate outcomes within this population. A classification system for early-onset scoliosis is thus a necessary prerequisite to the timely evolution of care of these patients.
METHODS:Fifteen experienced surgeons participated in a nominal group technique designed to achieve a consensus-based classification system for early-onset scoliosis. A comprehensive list of factors important in managing early-onset scoliosis was generated using a standardized literature review, semi-structured interviews, and open forum discussion. Three group meetings and two rounds of surveying guided the selection of classification components, subgroupings, and cut-points. Initial validation of the system was conducted using an interobserver reliability assessment based on the classification of a series of thirty cases.
RESULTS:Nominal group technique was used to identify three core variables (major curve angle, etiology, and kyphosis) with high group content validity scores. Age and curve progression ranked slightly lower. Participants evaluated the cases of thirty patients with early-onset scoliosis for reliability testing. The mean kappa value for etiology (0.64) was substantial, while the mean kappa values for major curve angle (0.95) and kyphosis (0.93) indicated almost perfect agreement. The final classification consisted of a continuous age prefix, etiology (congenital or structural, neuromuscular, syndromic, and idiopathic), major curve angle (1, 2, 3, or 4), and kyphosis (–, N, or +) variables, and an optional progression modifier (P0, P1, or P2).
CONCLUSIONS:Utilizing formal consensus-building methods in a large group of surgeons experienced in treating early-onset scoliosis, a novel classification system for early-onset scoliosis was developed with all core components demonstrating substantial to excellent interobserver reliability. This classification system will serve as a foundation to guide ongoing research efforts and standardize communication in the clinical setting.
Marfan Syndrome: A Clinical Update Bitterman, Adam D; Sponseller, Paul D
Journal of the American Academy of Orthopaedic Surgeons,
2017-September, 2017-Sep, 2017-09-00, 20170901, Letnik:
25, Številka:
9
Journal Article
Recenzirano
Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by ...musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.
Retrospective multicenter review.
Determine the definition, indications, results, and outcomes, focusing on complications of vertebral column resection (VCR) for severe pediatric spinal deformity.
...The strict definition of the VCR procedure, indications, results, outcomes, and the numerous, potentially serious complications are unknown or controversial, and a large multicenter review has never been performed.
A total of 147 patients treated by 7 pediatric spinal deformity surgeons were reviewed-seventy-four females and 73 males, with an average age of 13.7 years, an average of 1.6 (range, 1-5) vertebrae resected, and an average follow-up of 17 months (range, 0.5-64 mo). The strict definition of VCR used was a "3-column circumferential vertebral osteotomy creating a segmental defect with sufficient instability to require provisional instrumentation."
Indications for a VCR were divided into 5 diagnostic categories: kyphoscoliosis (n = 52), severe scoliosis (n = 37), congenital deformity (n = 28), global kyphosis (n = 17), and angular kyphosis (n = 13). Eighty-four primary and 63 revision patients with 174 operative procedures, 127 posterior-only (17 staged), and 20 patients combined anterior-posterior (10 staged) were reviewed. Average preoperative upright, flexibility, and postoperative Cobb measures (% correction or average kyphosis decrease) were kyphoscoliosis: 91°, 65°, 44° (51% coronal), 104°, 81°, and 47° (decrease, 57° sagittal); severe scoliosis: 104°, 78°, and 33° (67%); congenital deformity: 47°, 38°, 22° (46% coronal), 56°, 48°, and 32° (decrease, 24° sagittal); global kyphosis: 101°, 79°, and 47° (decrease, 54°); and angular kyphosis: 88°, 90°, and 38° (decrease, 50°), respectively. Operative time averaged 545 minutes (range, 204-1355 min) and estimated blood loss averaged 1610 mL (range, 50-8244 mL) for an average 65% blood volume loss (range, 6%-316%). Eighty-six patients (59%) developed a complication, 39 patients (27%) having an intraoperative neurological event (spinal cord monitoring change or failed wake-up test); however, no patient had complete permanent paraplegia.
A total of 147 consecutive pediatric VCRs performed by 7 surgeons demonstrated excellent radiographical correction. However, these complex reconstructions were associated with a 59% complication rate, thus emphasizing the challenging nature of these patients and procedures.
A retrospective review.
To assess the relationship between diagnosis and blood loss in children undergoing posterior spinal fusion surgery for deformity correction.
To our knowledge, this ...relationship is not well established. It has important implications for understanding the mechanisms for blood loss and planning for surgery.
Clinical records were reviewed for all patients 10 to 18 years of age who underwent spinal fusion surgery (at least 5 levels) by the senior author from 2001 through 2011. Patients were excluded for antifibrinolytic use, vertebral column resections, history of spinal surgery, nonpedicle screw instrumentation, cervical spine fusion, or anterior approaches. The 617 patients (with 37 diagnoses) were categorized into 5 groups: idiopathic scoliosis (IS), Scheuermann kyphosis (SK), cerebral palsy, other neuromuscular disorders, and genetic and syndromic disorders. Analysis of covariance was used to assess differences in blood loss across the diagnostic groups. Normalized blood loss (NBL) was calculated by dividing blood loss by number of levels fused and by patient's weight; NBL differences between groups were analyzed using Bonferroni correction method. Significance was set at P < 0.05.
Blood loss differed significantly by diagnostic group, adjusting for extent of fusion and patient weight (P < 0.001). Patients with cerebral palsy had a significantly higher NBL than patients with IS (P < 0.001), SK (P < 0.001), other neuromuscular disorders (P = 0.049), or genetic and syndromic disorders (P = 0.006). Patients with other neuromuscular disorders had a significantly higher NBL than patients with IS (P < 0.001) or SK (P < 0.001). Patients with genetic and syndromic disorders also had a significantly higher NBL than patients with IS (P < 0.001) or SK (P < 0.001).
There is a significant relationship between patient diagnosis and blood loss during posterior spinal fusion surgery in children.
Three-dimensional computed tomography (CT) radiographic analysis.
To describe the parameters for a trajectory through a sacral starting point as a method of pelvic fixation in spinal deformity and to ...compare this technique with insertion from the posterior superior iliac spine (PSIS).
Long anchors projecting into the ilium provide optimal pelvic fixation. The traditional starting point in the PSIS requires muscle dissection and connectors or rod bends.
Twenty pelvic CTs of mature adolescents were analyzed using InSpace, a three-dimensional CT program, by 2 surgeons. Trajectory with maximal length and width through the sacral ala and iliac wing was obtained through CT imaging plane manipulation. Trajectory and starting-point parameters were measured. Parameters were evaluated and compared for insertion from the PSIS.
Based on the ideal trajectory, the mean starting point in S2 was 25 mm caudal to the superior endplate of S1 and 22 mm lateral to the sacral midline (S2 alar-iliac S2AI path). Maximal mean S2AI distance was 105 mm (range, 74-129 mm; SD = 11 mm). Maximal mean length for PSIS insertion was 118 mm (range, 99-147 mm; SD = 13 mm). Mean angulation was 40 degrees (SD = 6 degrees ) laterally in the transverse plane and 39 degrees (SD = 6 degrees ) caudally in the sagittal plane. The mean difference between surgeons in selecting the trajectory was 2 degrees and 1 degrees in the transverse and sagittal plane, respectively. The S2AI pathway traversed 35 mm of sacral ala. The narrowest mean width of the ilium along this path was 12 mm (range, 6-18 mm). The starting point for the S2AI was 19 mm deep to the PSIS. The distance from skin for S2AI versus PSIS techniques was 52 and 37 mm, respectively.
Iliac fixation through the S2 ala provides a reproducibly chosen starting point in line with S1 pedicle anchors. Implant prominence is minimized because the starting point is 15 mm deeper than the PSIS entry. It is less likely to be affected in cases using iliac crest bone graft harvest because of the more anterior position of the anchor in the ilium.
Retrospective review.
To investigate the rates and reasons for unplanned readmissions and reoperation after pediatric spinal fusion surgery at our institution and to identify risk factors by ...analyzing patient and surgical characteristics. Unplanned readmission and reoperation were defined as unplanned events within 90 days of the index surgery.
The rate of unplanned readmission and reoperation after pediatric spinal fusion surgery is not well established.
Clinical records were reviewed for all children who underwent spinal fusion surgical procedures for spinal deformity correction performed by 1 surgeon from 2000 through 2013 at our institution. Inclusion criteria were age of 10 to 18 years at surgery, fusion spanning more than 5 vertebral levels, and 3 months of clinical or radiographical follow-up (1002 patients met these criteria). Univariate and multivariate logistic regression models were created. Statistical significance was set at a P value of less than 0.05 for all analyses.
The overall 90-day unplanned readmission and reoperation rates were 8.0% and 3.8%, respectively. The most common causes of readmission were wound dehiscence (1.8%), deep wound infection (1.5%), pulmonary complications (1%), and superficial wound infection (0.9%). Univariate analysis showed that readmission was significantly associated with a higher number of levels fused, greater estimated blood loss, longer length of stay, and certain diagnoses; reoperation was significantly associated with a higher number of levels fused and certain diagnoses. On multivariate analysis, only patient diagnosis was found to be significantly associated with readmission and reoperation; patients with congenital scoliosis, genetic or syndromic scoliosis, cerebral palsy, and other neuromuscular disorders had significantly higher rates.
Unplanned readmission rate after pediatric spinal fusion surgery was 8%, most commonly for wound dehiscence and deep and superficial infections. Increased intraoperative blood loss, higher number of levels fused, and certain diagnoses are risk factors for unplanned readmission.
4.
Achieving solid osseous fusion across the lumbosacral junction has historically been, and continues to be, a challenge in spine surgery. Robust pelvic fixation plays an integral role in achieving ...this goal. The goals of this review are to describe the history of and indications for spinopelvic fixation, examine conventional spinopelvic fixation techniques, and review the newer S2-alar-iliac technique and its outcomes in adult and pediatric patients with spinal deformity. Since the introduction of Harrington rods in the 1960s, spinal instrumentation has evolved substantially. Indications for spinopelvic fixation as a means to achieve lumbosacral arthrodesis include a long arthrodesis (five or more vertebral levels) or use of three-column osteotomies in the lower thoracic or lumbar spine, surgical treatment of high-grade spondylolisthesis, and correction of lumbar deformity and pelvic obliquity. A variety of techniques have been described over the years, including Galveston iliac rods, Jackson intrasacral rods, the Kostuik transiliac bar, iliac screws, and S2-alar-iliac screws. Modern iliac screws and S2-alar-iliac screws are associated with relatively low rates of pseudarthrosis. S2-alar-iliac screws have the advantages of less implant prominence and inline placement with proximal spinal anchors. Collectively, these techniques provide powerful methods for obtaining control of the pelvis in facilitating lumbosacral arthrodesis.
STUDY DESIGN.Retrospective review of the Healthcare Cost and Utilization Projectʼs Kids’ Inpatient Database.
OBJECTIVE.The aim of this study was to investigate variations in surgical case volume in ...the US for spinal arthrodesis for pediatric patients with scoliosis.
SUMMARY OF BACKGROUND DATA.Approximately 38,000 spinal arthrodesis procedures are performed each year in the United States for pediatric patients with scoliosis. Anecdotally, pediatric spine surgeons report performing more scoliosis procedures during summer months and before national holidays than during other periods, but this has not been reported in the literature. A thorough understanding of seasonal variations in surgical volume may guide the allocation of health care resources.
METHODS.Using the Healthcare Cost and Utilization Projectʼs Kids’ Inpatient Database, we identified 32,563 patients aged <21 years with adolescent idiopathic scoliosis (54%), neuromuscular scoliosis (19%), congenital scoliosis (12%), early-onset scoliosis (12%), or scoliosis from other causes (5%) who underwent primary spinal arthrodesis from 2000 through 2016. χ goodness-of-fit tests were used to evaluate seasonal differences in the number of spinal arthrodesis procedures performed. A negative binomial distribution model was used to compare surgical volume by month. Alpha = 0.05.
RESULTS.We found significant seasonal variation in the volume of spinal arthrodesis procedures performed, which persisted after stratifying by type of scoliosis (all, P < 0.001). For all types of scoliosis, surgical volume was highest during the summer. The 3 months with the highest surgical volumes were June, July, and December.
CONCLUSION.The number of spinal arthrodesis procedures performed in the United States for pediatric scoliosis peaked significantly during the summer, with the highest volume of surgeries performed during June, July, and December. An understanding of these variations can help hospitals and providers allocate resources appropriately throughout the year according to predictable changes in surgical volume.Level of Evidence4
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