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2.
Cancers (Basel) ; 16(7)2024 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-38611017

RESUMEN

BACKGROUND: Metal implants have been preferentially used in THA due to its biocompatibility, mechanical stability and durability. Yet concerns have emerged regarding their potential to release metallic ions, leading to long-term adverse effects, including carcinogenicity. This study aimed to investigate the risk of cancer development in patients with orthopaedic metal implants in total hip arthroplasty (THA). METHODS: Patients with THA conducted at a local tertiary implant centre from 2001-2008 were linked to the local cancer registry and followed up to the end of 2023. Standardized incidence ratios (SIRs) for cancer incidence and its confidence interval by Poisson distribution were calculated. Survival analysis was depicted using the Kaplan-Meier method, and the log-rank test was used to assess the differences across groups. RESULTS: The study cohort included 388 patients and 53 cancers diagnosed during follow-up, at least 5 years post THA. All-site cancer risks were increased in patients with THA (SIR: 1.97; 95% CI: 1.48-2.46), validated with chi-square analysis (chi-square = 15.2551, N = 100,388, p < 0.01). A statistically significant increase in multiple site-specific cancers including haematological cancers were identified. CONCLUSIONS: Patients with THA were found to have an increased risk for cancer compared to the general population during a mean follow-up of 16 years.

3.
Proc Natl Acad Sci U S A ; 121(18): e2310283121, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38669183

RESUMEN

Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt/ß-catenin signaling has been implicated in somite development, the function of Wnt/planar cell polarity (Wnt/PCP) signaling in this process remains unclear. Here, we investigated the role of Vangl1 and Vangl2 in vertebral development and found that their deletion causes vertebral anomalies resembling human CVMs. Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in VANGL1 and VANGL2, many of which exhibited loss-of-function and dominant-negative effects. Zebrafish models confirmed the pathogenicity of these variants. Furthermore, we found that Vangl1 knock-in (p.R258H) mice exhibited vertebral malformations in a Vangl gene dose- and environment-dependent manner. Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients, providing insights into the molecular mechanisms underlying this disorder.


Asunto(s)
Proteínas Portadoras , Polaridad Celular , Proteínas de la Membrana , Columna Vertebral , Pez Cebra , Animales , Pez Cebra/genética , Pez Cebra/embriología , Humanos , Ratones , Polaridad Celular/genética , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Columna Vertebral/anomalías , Columna Vertebral/metabolismo , Proteínas de Pez Cebra/genética , Proteínas de Pez Cebra/metabolismo , Escoliosis/genética , Escoliosis/congénito , Escoliosis/metabolismo , Vía de Señalización Wnt/genética , Predisposición Genética a la Enfermedad , Proteínas del Tejido Nervioso/genética , Proteínas del Tejido Nervioso/metabolismo , Péptidos y Proteínas de Señalización Intracelular/genética , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Femenino
4.
Bone Jt Open ; 5(3): 243-251, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38522456

RESUMEN

Aims: This systematic review aims to identify 3D predictors derived from biplanar reconstruction, and to describe current methods for improving curve prediction in patients with mild adolescent idiopathic scoliosis. Methods: A comprehensive search was conducted by three independent investigators on MEDLINE, PubMed, Web of Science, and Cochrane Library. Search terms included "adolescent idiopathic scoliosis","3D", and "progression". The inclusion and exclusion criteria were carefully defined to include clinical studies. Risk of bias was assessed with the Quality in Prognostic Studies tool (QUIPS) and Appraisal tool for Cross-Sectional Studies (AXIS), and level of evidence for each predictor was rated with the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) approach. In all, 915 publications were identified, with 377 articles subjected to full-text screening; overall, 31 articles were included. Results: Torsion index (TI) and apical vertebral rotation (AVR) were identified as accurate predictors of curve progression in early visits. Initial TI > 3.7° and AVR > 5.8° were predictive of curve progression. Thoracic hypokyphosis was inconsistently observed in progressive curves with weak evidence. While sagittal wedging was observed in mild curves, there is insufficient evidence for its correlation with curve progression. In curves with initial Cobb angle < 25°, Cobb angle was a poor predictor for future curve progression. Prediction accuracy was improved by incorporating serial reconstructions in stepwise layers. However, a lack of post-hoc analysis was identified in studies involving geometrical models. Conclusion: For patients with mild curves, TI and AVR were identified as predictors of curve progression, with TI > 3.7° and AVR > 5.8° found to be important thresholds. Cobb angle acts as a poor predictor in mild curves, and more investigations are required to assess thoracic kyphosis and wedging as predictors. Cumulative reconstruction of radiographs improves prediction accuracy. Comprehensive analysis between progressive and non-progressive curves is recommended to extract meaningful thresholds for clinical prognostication.

5.
Bone Joint J ; 106-B(4): 419, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38555940
6.
Artículo en Inglés | MEDLINE | ID: mdl-38504587

RESUMEN

STUDY DESIGN: A retrospective cohort study. OBJECTIVE: To evaluate the mid-term effect of intervertebral disc degeneration (DD) in adolescent idiopathic scoliosis (AIS) patients who underwent pedicle screw instrumentation (PSI) and rod derotation (RD) with direct vertebral rotation (DVR). SUMMARY OF BACKGROUND DATA: Posterior spinal fusion is a mainstay of surgical treatment in AIS, and DVR is considered a main corrective maneuver for vertebral rotation. However, the mid-term effect of intervertebral DD after DVR is still unknown in AIS. METHODS: A total of 336 vertebrae for 48 AIS patients who underwent PSI and RD with DVR were retrospectively assessed for intervertebral DD. They were divided into two groups based upon intervertebral DD, defined as Pfirmann grade more than IV. The Pfirrmann grade and modic change were evaluated at the disc above the uppermost instrumented vertebra (UIV), the disc below the lowest instrumented vertebra (LIV), and the lumbar disc levels. RESULTS: With the 11.6 years of mean follow-up, 41.7% (20/48) of patients exhibited DD, while modic changes were observed in 4.2% (2/48) of included patients. The disc below the LIV, L4-5, and L5-S1 were significantly shown to have an increasing trend of Pfirmann grade. The preoperative thoracic kyphosis was significantly lower in the DD group (22.0°) than in the non-DD group (31.4°) (P = 0.025) and negatively correlated with DD (r = -0.482, P = 0.018). The Pfirrmann grade of L5-S1 showed a high level of correlation with DD (r = 0.604, P < 0.001). CONCLUSIONS: The degenerative change at the disc below the LIV, L4-5, and L5-S1 levels was observed following PSI and RD with DVR. Thoracic hypokyphosis may negatively influence intervertebral discs in AIS patients required for deformity correction. Therefore, restoration of thoracic kyphosis is important to prevent long-term DD in AIS.

7.
Front Pediatr ; 12: 1323756, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38516354

RESUMEN

Objectives: (1) Compare the cross-sectional thickness (CST) and shear wave speed (SWS) of paraspinal muscles (PSM) in adolescent idiopathic scoliosis (AIS) with and without curve progression; (2) investigate the relationship between CST/SWS and radiographic characteristics in AIS with curve progression; (3) compare the CST/SWS between AIS and non-scoliosis controls. Methods: This cross-sectional study analyzed the CST and SWS of PSM in 48 AIS with mild to moderate curvature and 24 non-scoliosis participants. Participants with scoliosis greater than 45° of Cobb angles were excluded. The Change of Cobb angles within the last 6-months was retrieved to allocate AIS into progression and non-progression groups. The SWS and CST of multifidus; longissimus and iliocostalis of the major curve were measured using B-mode ultrasound image with an elastography mode. Discrepancies of the SWS (SWS-ratio: SWS on the convex side divided by SWS on the concave side) and CST (CST-ratio: CST on the convex side divided by CST on the concave side) at the upper/lower end and apical vertebrae were studied. Results: A higher SWS at the apical vertebrae on the concave side of the major curve (multifidus: 3.9 ± 1.0 m/s vs. 3.1 ± 0.6 m/s; p < 0.01, longissimus: 3.3 ± 1.0 m/s vs. 3.0 ± 0.9 m/s; p < 0.01, iliocostalis: 2.8 ± 1.0 m/s vs. 2.5 ± 0.8 m/s; p < 0.01) was observed in AIS with curve progression. A lower SWS-ratio at apical vertebrae was detected with a greater vertebral rotation in participants with curve progression (multifidus [grade II]: 0.7 ± 0.1 vs. grade I: 0.9 ± 0.2; p = 0.03, longissimus [grade II]: 0.8 ± 0.2 vs. grade I: 1.1 ± 0.2; p < 0.01). CST was not different among the progressive, non-progressive AIS and non-scoliosis controls. Conclusions: Increased SWS of PSM without change of CST was observed on the concave side of the major curve in participants with progressive AIS.

8.
Bone Joint J ; 106-B(3): 286-292, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38423123

RESUMEN

Aims: To systematically evaluate whether bracing can effectively achieve curve regression in patients with adolescent idiopathic scoliosis (AIS), and to identify any predictors of curve regression after bracing. Methods: Two independent reviewers performed a comprehensive literature search in PubMed, Ovid, Web of Science, Scopus, and Cochrane Library to obtain all published information about the effectiveness of bracing in achieving curve regression in AIS patients. Search terms included "brace treatment" or "bracing," "idiopathic scoliosis," and "curve regression" or "curve reduction." Inclusion criteria were studies recruiting patients with AIS undergoing brace treatment and one of the study outcomes must be curve regression or reduction, defined as > 5° reduction in coronal Cobb angle of a major curve upon bracing completion. Exclusion criteria were studies including non-AIS patients, studies not reporting p-value or confidence interval, animal studies, case reports, case series, and systematic reviews. The GRADE approach to assessing quality of evidence was used to evaluate each publication. Results: After abstract and full-text screening, 205 out of 216 articles were excluded. The 11 included studies all reported occurrence of curve regression among AIS patients who were braced. Regression rate ranged from 16.7% to 100%. We found evidence that bracing is effective in achieving curve regression among compliant AIS patients eligible for bracing, i.e. curves of 25° to 40°. A similar effect was also found in patients with major curve sizes ranging from 40° to 60° when combined with scoliosis-specific exercises. There was also evidence showing that a low apical vertebral body height ratio, in-brace correction, smaller pre-brace Cobb angle, and daily pattern of brace-wear compliance predict curve regression after bracing. Conclusion: Bracing provides a corrective effect on scoliotic curves of AIS patients to achieve curve regression, given there is high compliance rate and the incorporation of exercises.


Asunto(s)
Tirantes , Cifosis , Escoliosis , Adolescente , Humanos , Cifosis/terapia , Cooperación del Paciente , Estudios Retrospectivos , Escoliosis/diagnóstico por imagen , Escoliosis/terapia , Resultado del Tratamiento
9.
J Mech Behav Biomed Mater ; 152: 106443, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38308976

RESUMEN

The macro scale physical properties of cancellous bone materials are governed by the microstructural features, which is of great significance for the multi-scale research of cancellous bone and the inverse design of bone-mimicking materials. Therefore, it is essential to characterize the natural cancellous bone samples, and reconstruct the microstructures with the biomimetic osteointegration and mechanical properties. In this research, a novel approach for the characterization and reconstruction of cancellous bone was proposed, based on the medical image analysis and anisotropic three-dimensional Gaussian random field (GRF). The geometric similarity, i.e. the interface curvature distribution (ISD), was meticulously studied, which is important to the osteointegration ability. And the mechanical properties were validated by the stress-strain curves under the large compressive strain simulated by the smoothed particle hydrodynamic (SPH) method. In addition, the effects of the generation parameters of GRF-based biomimetic microstructures on the apparent properties were analyzed. The ISD results demonstrated that both GRF and micro-CT groups had the similar columnar morphological properties, while the latter had more hyperbolic features. And it was found that the GRF-based biomimetic microstructures and the natural bone samples based on micro-CT (MCT) had the similar failure mode. The concordance correlation coefficient between MCT and GRF pairs was 0.8685, with a Pearson ρ value of 0.8804, and significance level p<0.0001. The Bland-Altman LoA was 0.1647 MPa with 95 % (1.96SD) lower and upper bound value between -0.2892 and 0.6185 MPa. The two groups had almost the same elastic modulus with the mean absolute percentage error (MAPE) of 7.84 %. While the yield stress and total conversion energy of the GRF-based samples were lower than those of the natural bone samples, and the MAPE were 16.99 % and 16.27 %, respectively. Although it meant the lower structural efficiency, the huge design space of this approach and advanced 3D printing technology can provide great potential for the design of orthopedic implants.


Asunto(s)
Huesos , Hueso Esponjoso , Estrés Mecánico , Módulo de Elasticidad , Prótesis e Implantes
10.
Rheumatol Adv Pract ; 8(1): rkae015, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38405075

RESUMEN

Objective: Using whole spine sagittal T2 MRI, we aimed to compare the severity and prevalence of disc degeneration (DD) in axial SpA patients vs the general population and to determine any association between spinal inflammation, structural changes, mobility and DD among SpA patients. Methods: Two prospectively collected cohorts of SpA patients (n = 411) and the general population (n = 2007) were recruited. Eventually, 967 participants from the populational cohort and 304 participants from the SpA cohort were analysed. Two hundred and nineteen matched pairs were generated by propensity score matching. Imaging parameters, including Pfirrmann grading, disc herniation, high-intensity zone, Schmorl's node, Modic change and anterior marrow change were studied and compared from C2/3 to L5/S1. DD was defined as Pfirrmann grade 4 or 5. Demographic factors, including age, sex and BMI, were collected. Multivariable linear regression was used to determine the association between spinal inflammation [Spondyloarthritis Research Consortium of Canada (SPARCC) spine MRI index], structural changes [modified Stoke Ankylosing Spondylitis Spinal Score (mSASSS)] and mobility (BASMI) with lumbar Pfirrmann score. Results: SpA patients had lower prevalence of DD (P < 0.001). The disease stage-stratified regression model showed that SPARCC spinal MRI index was associated with higher lumbar Pfirrmann scores in early disease (ß = 0.196, P = 0.044), whereas mSASSS was associated with lower lumbar Pfirrmann scores in later disease (ß = -0.138, P = 0.038). Males had higher mSASSS (P < 0.001) and lower odds of whole spine DD (odds ratio = 0.622, P = 0.028). Conclusion: SpA patients had lower DD severity than the general population. Males had higher mSASSSs, and increased mSASSS at later disease was associated with less severe DD.

11.
J Pediatr Nurs ; 75: e135-e141, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38216347

RESUMEN

PURPOSE: To explore the stressors, coping strategies, and mental health of adolescents diagnosed with idiopathic scoliosis. DESIGN AND METHODS: This study adopted a descriptive qualitative study design. Twelve participants were recruited from a local non-government organization in Hong Kong. Semi-structured interviews were conducted to collect data. Verbatim transcriptions of interviews were coded and analyzed using thematic analysis. The guideline of the Consolidated Criteria for Reporting Qualitative Studies was used to report the findings. RESULTS: Five themes were identified: "Disease- and treatment-induced changes and stressors", "Cognitive assessment and personal perceptions", "Behavioral and emotional coping strategies", "Social interactions and social support", and "Deteriorating or thriving in psychological development and well-being". CONCLUSIONS: Adolescents with idiopathic scoliosis experienced a variety of physical and psychological stressors. It is imperative to prioritize efforts to promote adaptive coping and activate social support systems to achieve better outcomes in this population. PRACTICAL IMPLICATIONS: Healthcare providers should aim to comprehend the experiences of adolescents with idiopathic scoliosis for improved clinical interactions and holistic care. Future research should prioritize coping-based interventions, to enhance adaptive coping behaviors and the well-being of this population.


Asunto(s)
Salud Mental , Escoliosis , Humanos , Adolescente , Adaptación Psicológica , Estrés Psicológico , Habilidades de Afrontamiento , Investigación Cualitativa
12.
J Bone Joint Surg Am ; 106(6): 531-541, 2024 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-38261654

RESUMEN

BACKGROUND: The Proximal Femur Maturity Index (PFMI) can be used to assess skeletal maturity on existing whole-spine radiographs without additional radiation. However, the relationship between the PFMI at the initiation of bracing for adolescent idiopathic scoliosis (AIS) and subsequent curve progression remains unknown. This study aimed to investigate the relationship between the PFMI and curve progression, and the predictability of risks to adulthood curve progression and surgical thresholds based on the PFMI grade at brace initiation. METHODS: This was a prospective study of 202 patients with AIS who were prescribed underarm bracing according to the Scoliosis Research Society criteria and had good brace-wear compliance. The patients were followed from brace initiation until complete skeletal maturity. Longitudinal data on the coronal Cobb angle and skeletal maturity assessments using Risser staging, Sanders staging, the distal radius and ulna classification, and the PFMI were collected. Each patient was assessed on whether the major curve progressed to ≥40° (adulthood deterioration) and ≥50° (the surgical threshold). Logistic regressions were used to predict probabilities of curve progression to the 2 thresholds, adjusted for factors that were significant in univariate analyses. RESULTS: The PFMI correlated with the other skeletal maturity indices (r s [Spearman rank correlation] = 0.60 to 0.72, p < 0.001 for all). The pre-brace PFMI grade correlated with progression to ≥40° (r rb [rank-biserial correlation] = -0.30, p < 0.001) and to ≥50° (r rb = -0.20, p = 0.005). Based on regression models (p < 0.001) adjusted for the pre-brace major Cobb angle and curve type, brace initiation at PFMI grades 2 and 3 for a curve of ≥30° had predicted risks of 30% (95% confidence interval [CI], 4% to 55%) and 12% (95% CI, 7% to 17%), respectively, for progression to the surgical threshold. Brace initiation at PFMI grade 5 had 0% progression risk. CONCLUSIONS: The PFMI can be used for predicting curve progression and prognosticating brace outcomes in AIS. Patients with brace initiation at PFMI grade 4 for a curve of <30° or at grade 5 were unlikely to progress to the adulthood deterioration or surgical threshold. In comparison, skeletally immature patients initiating bracing at a PFMI grade of ≤3 for a major curve of ≥30° had a higher risk of progression despite compliant brace wear. LEVEL OF EVIDENCE: Prognostic Level II . See Instructions for Authors for a complete description of levels of evidence.


Asunto(s)
Cifosis , Escoliosis , Humanos , Adolescente , Escoliosis/diagnóstico por imagen , Escoliosis/terapia , Estudios Prospectivos , Estudios Retrospectivos , Columna Vertebral , Tirantes , Fémur/diagnóstico por imagen , Progresión de la Enfermedad , Resultado del Tratamiento
13.
Elife ; 122024 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-38277211

RESUMEN

Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the PAX1 gene. Here, we sought to define the roles of PAX1 and newly identified AIS-associated genes in the developmental mechanism of AIS. In a genetic study of 10,519 individuals with AIS and 93,238 unaffected controls, significant association was identified with a variant in COL11A1 encoding collagen (α1) XI (rs3753841; NM_080629.2_c.4004C>T; p.(Pro1335Leu); p=7.07E-11, OR = 1.118). Using CRISPR mutagenesis we generated Pax1 knockout mice (Pax1-/-). In postnatal spines we found that PAX1 and collagen (α1) XI protein both localize within the intervertebral disc-vertebral junction region encompassing the growth plate, with less collagen (α1) XI detected in Pax1-/- spines compared to wild-type. By genetic targeting we found that wild-type Col11a1 expression in costal chondrocytes suppresses expression of Pax1 and of Mmp3, encoding the matrix metalloproteinase 3 enzyme implicated in matrix remodeling. However, the latter suppression was abrogated in the presence of the AIS-associated COL11A1P1335L mutant. Further, we found that either knockdown of the estrogen receptor gene Esr2 or tamoxifen treatment significantly altered Col11a1 and Mmp3 expression in chondrocytes. We propose a new molecular model of AIS pathogenesis wherein genetic variation and estrogen signaling increase disease susceptibility by altering a PAX1-COL11a1-MMP3 signaling axis in spinal chondrocytes.


Adolescent idiopathic scoliosis (AIS) is a twisting deformity of the spine that occurs during periods of rapid growth in children worldwide. Children with severe cases of AIS require surgery to stop it from getting worse, presenting a significant financial burden to health systems and families. Although AIS is known to cluster in families, its genetic causes and its inheritance pattern have remained elusive. Additionally, AIS is known to be more prevalent in females, a bias that has not been explained. Advances in techniques to study the genetics underlying diseases have revealed that certain variations that increase the risk of AIS affect cartilage and connective tissue. In humans, one such variation is near a gene called Pax1, and it is female-specific. The extracellular matrix is a network of proteins and other molecules in the space between cells that help connect tissues together, and it is particularly important in cartilage and other connective tissues. One of the main components of the extracellular matrix is collagen. Yu, Kanshour, Ushiki et al. hypothesized that changes in the extracellular matrix could affect the cartilage and connective tissues of the spine, leading to AIS. To show this, the scientists screened over 100,000 individuals and found that AIS is associated with variants in two genes coding for extracellular matrix proteins. One of these variants was found in a gene called Col11a1, which codes for one of the proteins that makes up collagen. To understand the relationship between Pax1 and Col11a1, Yu, Kanshour, Ushiki et al. genetically modified mice so that they would lack the Pax1 gene. In these mice, the activation of Col11a1 was reduced in the mouse spine. They also found that the form of Col11a1 associated with AIS could not suppress the activation of a gene called Mmp3 in mouse cartilage cells as effectively as unmutated Col11a1. Going one step further, the researchers found that lowering the levels of an estrogen receptor altered the activation patterns of Pax1, Col11a1, and Mmp3 in mouse cartilage cells. These findings suggest a possible mechanism for AIS, particularly in females. The findings of Yu, Kanshour, Ushiki et al. highlight that cartilage cells in the spine are particularly relevant in AIS. The results also point to specific molecules within the extracellular matrix as important for maintaining proper alignment in the spine when children are growing rapidly. This information may guide future therapies aimed at maintaining healthy spinal cells in adolescent children, particularly girls.


Asunto(s)
Escoliosis , Masculino , Animales , Niño , Ratones , Humanos , Femenino , Adolescente , Escoliosis/genética , Metaloproteinasa 3 de la Matriz/genética , Columna Vertebral , Factores de Transcripción/genética , Colágeno/genética , Variación Genética , Colágeno Tipo XI/genética
14.
Cancers (Basel) ; 16(2)2024 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-38254743

RESUMEN

Bone is the most common organ for the development of metastases in many primary tumours, including those of the breast, prostate and lung. In most cases, bone metastasis is incurable, and treatment is predominantly palliative. Much research has focused on the role of Circulating Tumour Cells (CTCs) in the mechanism of metastasis to the bone, and methods have been developed to isolate and count CTCs from peripheral blood. Several methods are currently being used in the study of CTCs, but only one, the CellSearchTM system has been approved by the United States Food and Drug Administration for clinical use. This review summarises the advantages and disadvantages, and outlines which clinical studies have used these methods. Studies have found that CTC numbers are predictive of bone metastasis in breast, prostate and lung cancer. Further work is required to incorporate information on CTCs into current staging systems to guide treatment in the prevention of tumour progression into bone.

15.
Spine Deform ; 12(2): 357-365, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38015385

RESUMEN

BACKGROUND: Although back pain may be present in subjects with adolescent idiopathic scoliosis (AIS), its natural history is unknown. Therefore, this study evaluated the incidence of back pain in scoliotic adolescents longitudinally. METHODS: This retrospective analysis examined prospectively collected pain subscale data of the Scoliosis Research Society questionnaire between the initial presentation and up to 3 years of follow-up. Consecutive subjects with AIS aged 10-18 at baseline managed by observation within the study period were included. Study subjects with at least one time point of follow-up data were considered. Alternatively, a group with physiotherapy-treated was also included for comparison. RESULTS: We enrolled 428 subjects under observation. The incidence of back pain among study subjects was 14.7%, 18.8%, and 19.0% for the first year, second year, and third year of follow-up, respectively. Most experienced mild pain (1 out of 5 points) throughout the study. Neither incidence nor intensity of pain significantly differed between subjects under observation and received physiotherapy. Additionally, study subjects with a new onset of back pain had poorer function, self-image, and mental health scores than those without pain. CONCLUSION: We investigated the incidence of back pain longitudinally in subjects suffering from AIS. Further validation of the current results is warranted.


Asunto(s)
Escoliosis , Humanos , Adolescente , Estudios Retrospectivos , Estudios de Seguimiento , Incidencia , Dolor de Espalda/epidemiología , Dolor de Espalda/etiología
16.
J Clin Invest ; 134(2)2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-37962965

RESUMEN

Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity, affecting millions of adolescents worldwide, but it lacks a defined theory of etiopathogenesis. Because of this, treatment of AIS is limited to bracing and/or invasive surgery after onset. Preonset diagnosis or preventive treatment remains unavailable. Here, we performed a genetic analysis of a large multicenter AIS cohort and identified disease-causing and predisposing variants of SLC6A9 in multigeneration families, trios, and sporadic patients. Variants of SLC6A9, which encodes glycine transporter 1 (GLYT1), reduced glycine-uptake activity in cells, leading to increased extracellular glycine levels and aberrant glycinergic neurotransmission. Slc6a9 mutant zebrafish exhibited discoordination of spinal neural activities and pronounced lateral spinal curvature, a phenotype resembling human patients. The penetrance and severity of curvature were sensitive to the dosage of functional glyt1. Administration of a glycine receptor antagonist or a clinically used glycine neutralizer (sodium benzoate) partially rescued the phenotype. Our results indicate a neuropathic origin for "idiopathic" scoliosis, involving the dysfunction of synaptic neurotransmission and central pattern generators (CPGs), potentially a common cause of AIS. Our work further suggests avenues for early diagnosis and intervention of AIS in preadolescents.


Asunto(s)
Escoliosis , Animales , Humanos , Adolescente , Escoliosis/genética , Escoliosis/diagnóstico , Escoliosis/cirugía , Glicina/genética , Pez Cebra , Transmisión Sináptica
17.
IEEE Trans Vis Comput Graph ; 30(1): 327-337, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37878441

RESUMEN

Machine learning technology has become ubiquitous, but, unfortunately, often exhibits bias. As a consequence, disparate stakeholders need to interact with and make informed decisions about using machine learning models in everyday systems. Visualization technology can support stakeholders in understanding and evaluating trade-offs between, for example, accuracy and fairness of models. This paper aims to empirically answer "Can visualization design choices affect a stakeholder's perception of model bias, trust in a model, and willingness to adopt a model?" Through a series of controlled, crowd-sourced experiments with more than 1,500 participants, we identify a set of strategies people follow in deciding which models to trust. Our results show that men and women prioritize fairness and performance differently and that visual design choices significantly affect that prioritization. For example, women trust fairer models more often than men do, participants value fairness more when it is explained using text than as a bar chart, and being explicitly told a model is biased has a bigger impact than showing past biased performance. We test the generalizability of our results by comparing the effect of multiple textual and visual design choices and offer potential explanations of the cognitive mechanisms behind the difference in fairness perception and trust. Our research guides design considerations to support future work developing visualization systems for machine learning.


Asunto(s)
Gráficos por Computador , Confianza , Masculino , Humanos , Femenino , Confianza/psicología , Aprendizaje Automático , Sesgo , Encuestas y Cuestionarios
18.
Spine J ; 24(4): 692-720, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38008187

RESUMEN

BACKGROUND CONTEXT: Children with adolescent idiopathic scoliosis (AIS) may show asymmetrical paraspinal muscle characteristics. PURPOSE: To summarize the evidence regarding: (1) the associations between various paraspinal muscle characteristics and spinal curvature; (2) whether paraspinal muscle properties significantly differed between children with and without AIS; and (3) whether baseline paraspinal muscle characteristics predicted curve progression. STUDY DESIGN/SETTING: Systematic literature review. METHODS: Five databases (CINAHL, Academic Search Premier, MEDLINE, Scopus, and PubMed) were searched from inception to May 2022. This protocol was registered in the PROSPERO database of systematic reviews CRD 42020171263. The Critical appraisal skills program, the Appraisal Tool for Cross-Sectional Studies and Quality In Prognosis Studies tool were used to evaluate the risk of bias of the included studies. The strength of evidence of each identified association was determined by the Grading of Recommendations Assessment, Development, and Evaluation System (GRADE). RESULTS: Of 1,530 identified citations, four cohort, 17 cross-sectional, and 23 case-control studies including 31 with low, nine with moderate and four with high risk of bias were included. Low to very low-strength evidence supported that the convex side of the curve had more type I muscle fibers, higher muscle volume and paraspinal muscle activity, while the concavity had more intramuscular fatty infiltration. Very low-strength evidence substantiated greater side-to-side surface electromyography signals during left trunk bending in prone lying, standing, and standing with perturbation between people with and without AIS. Also, low to very low-strength evidence supported that a larger side-to-side surface electromyography ratio at the lower end vertebra predicted curve progression. CONCLUSIONS: Our review highlights that paraspinal muscles on the concavity of the curve demonstrate consistent changes (ie, altered muscle-related gene expression, muscle atrophy, increased fatty infiltration, reduced type I fibers, and reduced muscle activity), which may be the cause or consequence.


Asunto(s)
Cifosis , Escoliosis , Niño , Humanos , Adolescente , Músculos Paraespinales , Estudios Transversales , Revisiones Sistemáticas como Asunto , Columna Vertebral
19.
Eur Spine J ; 2023 Dec 03.
Artículo en Inglés | MEDLINE | ID: mdl-38043128

RESUMEN

PURPOSE: To compare the clinical effectiveness of reduction and fusion with in situ fusion in the management of patients with degenerative lumbar spondylolisthesis (DLS). METHODS: The systematic review was conducted following the PRISMA guidelines. Relevant studies were identified from PubMed, Embase, Scopus, Cochrane Library, ClinicalTrials.gov, and Google Scholar. The inclusion criteria were: (1) comparative studies of reduction and fusion versus in situ fusion for DLS patients, (2) outcomes reported as VAS/NRS, ODI, JOA score, operating time, blood loss, complication rate, fusion rate, or reoperation rate, (3) randomized controlled trials and observational studies published in English from the inception of the databases to January 2023. The exclusion criteria included: (1) reviews, case series, case reports, letters, and conference reports, (2) in vitro biomechanical studies and computational modeling studies, (3) no report on study outcomes. The risk of bias 2 (RoB2) tool and the Newcastle-Ottawa scale was conducted to assess the risk of bias of RCTs and observational studies, respectively. RESULTS: Five studies with a total of 704 patients were included (375 reduction and fusion, 329 in situ fusion). Operating time was significantly longer in the reduction and fusion group compared to in situ fusion group (weighted mean difference 7.20; 95% confidence interval 0.19, 14.21; P = 0.04). No additional significant intergroup differences were noted in terms of other outcomes analyzed. CONCLUSION: While the reduction and fusion group demonstrated a statistically longer operating time compared to the in situ fusion group, the clinical significance of this difference was minimal. The findings suggest no substantial superiority of lumbar fusion with reduction over without reduction for the management of DLS.

20.
J Pediatr Nurs ; 73: e586-e593, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37951727

RESUMEN

OBJECTIVES: Psychosocial interventions can improve teenagers' self-esteem, mental health and bracing compliance. There is a need to compile available evidence of psychosocial care in adolescent idiopathic scoliosis. This systematic review aimed to identify and evaluate the effects of existing interventional studies of psychosocial care for the adolescent idiopathic scoliosis population. METHODS: A comprehensive search of relevant literature published from the inception to March 2023 was conducted using nine databases. A google scholar search was performed on 1 July 2023, to update the searching results. Two reviewers independently assessed the methodological quality and extracted details of the included studies. Given the heterogeneity of the selected articles, the findings were synthesized narratively without conducting a meta-analysis. RESULTS: Four randomized controlled trials reported in six articles involving 385 teenagers were included. The interventions appeared acceptable with high recruitment rates and low dropout rates reported. Psychosocial interventions had shown significant positive effects on postoperative pain, engagement in daily and social activities as well as brace use, coping abilities and anxiety. CONCLUSION: Psychosocial interventions are generally feasible and acceptable among the adolescent idiopathic scoliosis population and have produced positive effects on a variety of physical and psychosocial outcomes. Study findings need to be interpreted with caution due to the limited number of available articles and the methodological concerns of the reviewed articles. PRACTICAL IMPLICATIONS: Well-designed clinical trials are warranted in people from cultural backgrounds to develop and implement effective psychosocial interventions for teenagers with adolescent idiopathic scoliosis, not only for those at the post-surgery stage but also for those receiving conservative treatment.


Asunto(s)
Escoliosis , Adolescente , Humanos , Tirantes , Habilidades de Afrontamiento , Salud Mental , Intervención Psicosocial , Escoliosis/terapia
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