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1.
Ann Phys Rehabil Med ; 67(6): 101852, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38824872

RESUMEN

BACKGROUND: There are several therapeutic options for the management of shoulder adhesive capsulitis (AC). The superiority of arthro-distension over intra-articular steroid injection (ISI) for AC remains controversial. OBJECTIVES: To evaluate the efficacy of a single arthro-distension procedure combined with early and intensive mobilization (ADM) and physiotherapy, versus ISI and physiotherapy, in people with AC lasting ≥3 months. METHODS: This was a prospective, 2 parallel-group, 2-center, observer-blind randomized controlled trial conducted in tertiary care settings. Adults with AC were randomly assigned to the treatment or control group. Efficacy was assessed using the self-administered Shoulder Pain and Disability Index (SPADI). Total, pain and disability SPADI scores 15 days, 6 weeks, and 3, 6 and 12 months after the procedure (total SPADI at 15 days: primary outcome; other outcomes were secondary) were compared between groups using analysis of covariance (ANCOVA). A post hoc analysis stratified on the initial range of passive glenohumeral abduction, which had not been pre-specified, was conducted. RESULTS: There were 33 participants in each group. Both groups improved over time. Mean (SD) total SPADI score at 15 days was 33.8 (19.6) in the treatment group and 32.8 (17.5) in the control group, p = 0.393. There were no significant differences for any variables in the overall sample. The post hoc analysis found ADM to be associated with a significant decrease in total SPADI score at 15 days compared with ISI (p = 0.049) in individuals with initial passive glenohumeral abduction >45°. CONCLUSIONS: The effects of ADM on pain and function were not statistically different from those of ISI. However, ADM may be useful in individuals with initial passive glenohumeral abduction >45°. DATABASE REGISTRATION: NCT00724113.

2.
JCI Insight ; 8(21)2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-37937645

RESUMEN

BACKGROUNDSlow-flow vascular malformations frequently harbor activating mutations in the PI3K/AKT/mTOR cascade. Phase II trials pinpointed sirolimus effectiveness as a drug therapy. Efficacy and safety of sirolimus thus need to be evaluated in large prospective phase III trials.METHODSThe Vascular Anomaly-Sirolimus-Europe (VASE) trial, initiated in 2016, is a large multicentric prospective phase III trial (EudraCT 2015-001703-32), which evaluates efficacy and safety of sirolimus for 2 years in pediatric and adult patients with symptomatic slow-flow vascular malformations. In this interim analysis, we studied all patients enrolled up to October 2021 who received sirolimus for 12 or more months or who prematurely stopped the treatment.RESULTSThirty-one pediatric and 101 adult patients were included in this analysis; 107 completed 12 or more months of sirolimus, including 61 who were treated for the whole 2-year period. Sirolimus resulted in a clinical improvement in 85% of patients. The efficacy appeared within the first month for the majority of them. Grade 3-4 adverse events were observed in 24 (18%) patients; all resolved after treatment interruption/arrest. Sirolimus increased feasibility of surgery or sclerotherapy in 20 (15%) patients initially deemed unsuitable for intervention. Among the 61 patients who completed the 2-year treatment, 33 (54%) reported a recurrence of symptoms after a median follow-up of 13 months after sirolimus arrest. While there was no difference in efficacy, clinical improvement was faster but subsided more rapidly in PIK3CA-mutated (n = 24) compared with TIE2-mutated (n = 19) patients.CONCLUSIONSirolimus has a high efficacy and good tolerance in treatment of slow-flow vascular malformations in children and adults.TRIAL REGISTRATIONClinicalTrials.gov NCT02638389 and EudraCT 2015-001703-32.FUNDINGThe Fonds de la Recherche Scientifique (FNRS grants T.0247.19, P.C005.22, T.0146.16, and P.C013.20), the Fund Generet managed by the King Baudouin Foundation (grant 2018-J1810250-211305), the Walloon Region through the FRFS-WELBIO strategic research programme (WELBIO-CR-2019C-06), the MSCA-ITN network V.A. Cure no. 814316, the Leducq Foundation Networks of Excellence Program grant "ReVAMP" (LFCR grant 21CVD03), the European Union's Horizon 2020 research and innovation programme under grant agreement no. 874708 (Theralymph), the Swiss National Science Foundation under the Sinergia project no. CRSII5_193694, and a Pierre M. fellowship.


Asunto(s)
Sirolimus , Malformaciones Vasculares , Adulto , Niño , Humanos , Europa (Continente) , Fosfatidilinositol 3-Quinasas , Estudios Prospectivos , Sirolimus/efectos adversos , Malformaciones Vasculares/tratamiento farmacológico , Malformaciones Vasculares/genética
3.
Nat Med ; 29(10): 2615-2624, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37770652

RESUMEN

Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by heterotopic ossification (HO) in connective tissues and painful flare-ups. In the phase 2 LUMINA-1 trial, adult patients with FOP were randomized to garetosmab, an activin A-blocking antibody (n = 20) or placebo (n = 24) in period 1 (28 weeks), followed by an open-label period 2 (28 weeks; n = 43). The primary end points were safety and for period 1, the activity and size of HO lesions. All patients experienced at least one treatment-emergent adverse event during period 1, notably epistaxis, madarosis and skin abscesses. Five deaths (5 of 44; 11.4%) occurred in the open-label period and, while considered unlikely to be related, causality cannot be ruled out. The primary efficacy end point in period 1 (total lesion activity by PET-CT) was not met (P = 0.0741). As the development of new HO lesions was suppressed in period 1, the primary efficacy end point in period 2 was prospectively changed to the number of new HO lesions versus period 1. No placebo patients crossing over to garetosmab developed new HO lesions (0% in period 2 versus 40.9% in period 1; P = 0.0027). Further investigation of garetosmab in FOP is ongoing. ClinicalTrials.gov identifier NCT03188666 .


Asunto(s)
Miositis Osificante , Osificación Heterotópica , Adulto , Humanos , Miositis Osificante/tratamiento farmacológico , Miositis Osificante/patología , Tomografía Computarizada por Tomografía de Emisión de Positrones , Osificación Heterotópica/patología
4.
Rev Epidemiol Sante Publique ; 71(4): 101858, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37271081

RESUMEN

OBJECTIVES: Low back pain (LBP) is one of the main expenditure items for health systems. Data on the economic impact of LBP are uncommon from the patient perspective. The aim of this study was to estimate the economic impact of work disability related to chronic LBP from the patient perspective. METHODS: We conducted a cross-sectional analysis from patients aged over 17 years suffering from non-specific LBP for at least 3 months. Systematic medical, social and economic assessments were collected: pain duration and intensity; functional disability with the Quebec Back Pain Disability Scale (0-100); quality of life with the Dallas Pain Questionnaire; job category; employment status; duration of work disability due to LBP, and income. Factors associated with loss of income were identified by multivariable logistic regression analysis. RESULTS: We included 244 workers (mean age 43 ± 9 years; 36% women); 199 patients had work disability, including 196 who were on sick leave, 106 due to job injury. Three were unemployed due to layoff for incapacity. The mean loss of income for patients with work disability was 14% [SD 24, range -100 to 70] and was significantly less for patients on sick leave due to job injury than on sick leave not related to job injury (p < 0.0001). On multivariable analysis, the probability of loss of income with LBP was about 50% less for overseers and senior managers than workers or employees (odds ratio 0.48 [95% confidence interval 0.23-0.99]). CONCLUSION: Work disability due to LBP resulted in loss of income in our study. The loss of income depended on the type of social protection and job category. It was reduced for patients on sick leave related to work injury and for overseers and senior managers.


Asunto(s)
Dolor de la Región Lumbar , Humanos , Femenino , Anciano , Adulto , Persona de Mediana Edad , Masculino , Dolor de la Región Lumbar/epidemiología , Dolor de la Región Lumbar/complicaciones , Calidad de Vida , Estudios Transversales , Empleo , Quebec/epidemiología , Ausencia por Enfermedad
5.
J Back Musculoskelet Rehabil ; 35(5): 1119-1124, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35342077

RESUMEN

BACKGROUND: Dynamic humeral centering (DHC) is a physiotherapy modality that aims to prevent sub-acromial impingement of rotator cuff tendons. We recently developed a new clinical manoeuver - the Viggo-Cochin test - to enhance the ability of the Neer test to detect sub-acromial impingement. Here we hypothesised whether the DHC effect may differ between individuals with positive and negative Viggo-Cochin test results. OBJECTIVE: To assess the association between DHC and Viggo-Cochin test results. METHODS: Individuals with shoulder pain due to sub-acromial impingement underwent the Neer and Viggo-Cochin tests at baseline. They were assessed before and after DHC by the Shoulder Pain and Disability Index (SPADI). A positive response to DHC was defined as a 20% reduction in the SPADI. RESULTS: We included 50 individuals (53 shoulders). The response to DHC did not differ by Neer test result at baseline: OR 0.73 [95% CI 0.22-2.38] (p= 0.601). By contrast, the response to DHC was 5-fold higher with a positive than negative Viggo-Cochin test result: OR 5.11 [95% CI 1.47-17.78] (p= 0.010). CONCLUSIONS: We found a higher clinical response to DHC with a positive than negative Viggo-Cochin test result at baseline in individuals with shoulder pain due to rotator cuff disease.


Asunto(s)
Lesiones del Manguito de los Rotadores , Síndrome de Abducción Dolorosa del Hombro , Acromion , Humanos , Húmero , Modalidades de Fisioterapia , Síndrome de Abducción Dolorosa del Hombro/diagnóstico , Dolor de Hombro/diagnóstico , Dolor de Hombro/terapia
6.
Bone ; 157: 116343, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35104665

RESUMEN

Increased interleukin-6 (IL-6) has been observed in the bone tissue of fibrous dysplasia of bone/McCune-Albright syndrome (FD/MAS) and is possibly involved in the increased bone destruction and bone pain characterizing this disease. The TOCIDYS trial was a randomized, placebo-controlled, 1 year, cross-over, proof-of-concept trial, conducted in patients not responding to bisphosphonates, using monthly intra-venous tocilizumab (a monoclonal antibody to the IL-6 receptor) at 8 mg/kg or a matching placebo for 6 months. Over the following 6 months, they received tocilizumab if they first had placebo, and vice-versa. We measured change in serum CTX after 6 months of treatment, compared with baseline (primary endpoint). Other endpoints were the change in bone pain, change in P1NP, bone alkaline phosphatase, osteocalcin and ICTP, and variation of quality of life. The analysis relied on ANOVA, with sequence of treatment, period and treatment as factors and accounting for a potential carry-over effect. We have randomized 8 patients with FD/MAS in each sequence who all completed the first 6 months treatment period. During the second 6 months period, 3 patients stopped therapy, so the efficacy analysis set included 13 patients. We observed no significant change in serum CTX and other biochemical markers of bone turnover between the tocilizumab and placebo groups. There was no significant change in the level of bone pain on tocilizumab, although 3 patients had a sharp decrease in pain while on active drug, with progressive relapse on placebo for 2 of them, but with some degree of improvement in a few patients while on placebo. The SF-36 quality of life scale was not significantly changed. We conclude that tocilizumab does not decrease bone turnover in FD/MAS when administered in patients who fail to respond to bisphosphonates. Tocilizumab does not reduce bone pain in most patients, but a substantial effect in a subset cannot be ruled out in this trial powered for markers but not for pain.


Asunto(s)
Displasia Fibrosa Ósea , Displasia Fibrosa Poliostótica , Biomarcadores , Huesos , Difosfonatos/farmacología , Difosfonatos/uso terapéutico , Método Doble Ciego , Displasia Fibrosa Ósea/tratamiento farmacológico , Displasia Fibrosa Poliostótica/tratamiento farmacológico , Humanos , Interleucina-6 , Dolor , Calidad de Vida
8.
Acta Orthop Belg ; 88(3): 483-489, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36791701

RESUMEN

BACKGROUND: Information is lacking on the natural history of early stages of degenerative rotator cuff disease. Such information can be obtained by using clinical and imaging assessment after conservative treatment in affected patients. HYPOTHESIS: Subacromial impingement syndrome is a clinical presentation that can be associated with early stages of the disease. We aimed to describe the natural history of degenerative rotator cuff disease from the early stages by studying clinical and imaging outcomes in non-operated patients with subacromial impingement syndrome. PATIENTS AND METHODS: Patients with subacromial impingement syndrome were prospectively included. They had conservative treatment and were assessed before treatment and during at least 12-month follow-up. Assessment included clinical evaluation on a 0- to 100-point Constant scale and subscales as well as MRI of the rotator cuff. Clinical results were compared to baseline MRI findings and according to lesional progression. RESULTS: We included 26 patients with mean age 59.1 (SD 9.6), mean pain duration 23.1 (31.3) months; mean total Constant score 39.1 (12.1). Overall, 9 patients had no tear, 9 had a partial tear and 8 had a full-thickness tear. Mean follow-up was 21 (SD 10) months. Total Constant score and subscores improved at follow-up in the overall sample. Patients without tear and those with partial or full-thickness tear at baseline showed clinical improvement. MRI of the rotator cuff at follow-up indicated lesional worsening in 7 patients. However, clinical improvement did not differ by lesional progression or not. CONCLUSION: We report on 21-month clinical and MRI assessments of degenerative rotator cuff disorders including early stages of the disease. Clinical improvement was not related to MRI changes over time. Further investigations are needed to verify our findings in larger study populations.


Asunto(s)
Lesiones del Manguito de los Rotadores , Síndrome de Abducción Dolorosa del Hombro , Humanos , Persona de Mediana Edad , Síndrome de Abducción Dolorosa del Hombro/terapia , Síndrome de Abducción Dolorosa del Hombro/tratamiento farmacológico , Estudios Prospectivos , Manguito de los Rotadores/cirugía , Imagen por Resonancia Magnética , Rotura , Lesiones del Manguito de los Rotadores/diagnóstico por imagen , Lesiones del Manguito de los Rotadores/terapia
9.
Osteoporos Int ; 33(3): 625-635, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34642813

RESUMEN

This observational study prospectively assessed direct and indirect costs related to patient management over 18 months following hip, clinical vertebral, humeral, or distal forearm fracture events in France. It appears that their levels were much higher than the previous estimates, raising the burden of osteoporosis-related fractures on public health expenditures. INTRODUCTION: This prospective observational study assessed the costs related to patient management over the 18-month period following the event of a hip, clinical vertebral, humeral, or distal forearm fracture in France. METHODS: Individuals aged ≥ 50 years old with the diagnosis of a fragility fracture in six French University Hospitals were enrolled in the International Costs and Utilities Related to Osteoporotic Fractures Study (ICUROS). All resources used over the defined period and related to fracture and the underlying osteoporosis management were collected by questionnaires at baseline, 4 months, 12 months, and 18 months. Information was collected by direct or phone contact completed by patients' records and interviews of partner, family, and general practitioners. Costs were estimated from a societal perspective, including direct and indirect costs. We implemented recursive partitioning analysis (RPA), a statistical learning algorithm to identify predictors of costs. RESULTS: Four hundred thirty-one patients (mean age 72.5 years; 84.6% women) were evaluated. Among them, 17.6% had a prior fracture in the last 5 years. Approximately half of the whole group lived alone in the community, and 56.8% were from a low- or middle-income category. Over the 18-month period of evaluation, total costs (including initial fracture-related and follow-up ones) were 23 926 €, 14 561 €, and 6 905 € for the hip, clinical vertebral, and distal forearm fracture, respectively. Over a year, costs related to a humeral fracture were 10 319 €. The RPA identified mobility impairment prior to fracture as a predictor of increase in costs related to fracture. CONCLUSIONS: Our study for the first time prospectively assessed total costs related to the four main osteoporotic fractures in France. It appears that their levels were much higher than previous estimates, raising the burden of osteoporosis-related fractures on public health expenditures.


Asunto(s)
Fracturas de Cadera , Fracturas Osteoporóticas , Anciano , Femenino , Antebrazo , Fracturas de Cadera/epidemiología , Fracturas de Cadera/etiología , Fracturas de Cadera/terapia , Humanos , Húmero , Masculino , Persona de Mediana Edad , Fracturas Osteoporóticas/epidemiología , Calidad de Vida
10.
Mol Genet Genomic Med ; 9(6): e1681, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33939331

RESUMEN

BACKGROUND: Early-onset osteoporosis (EOOP) is defined by low bone mineral density (BMD), which increases the risk of fracture. Although the prevalence of osteoporosis at a young age is unknown, low BMD is highly linked to genetic background. Heterozygous pathogenic variants in low-density lipoprotein receptor-related protein 5 (LRP5) are associated with EOOP. This study aimed to investigate the genetic profile in patients with EOOP to better understand the variation in phenotype severity by using a targeted gene sequencing panel associated with bone fragility. METHOD AND RESULTS: We used a sequencing panel with 17 genes reported to be related to bone fragility for analysis of 68 patients with EOOP. We found a high positivity rate of EOOP with LRP5 variants (14 patients, 20.6%). The remaining 79.4% of patients with EOOP but without LRP5 variants showed variable disease severity, as observed in patients with at least one variant in this gene. One patient, with multiple fractures and spine L1-L4 BMD Z-score -2.9, carried a novel pathogenic homozygous variant, c.2918T>C, p.(Leu973Pro), without any pseudoglioma. In addition to carrying the LRP5 variant, 2 other patients carried a heterozygous variant in Wnt signaling pathway genes: dickkopf WNT signaling pathway inhibitor 1 (DKK1) [NM_012242.4: c.359G>T, p.(Arg120Leu)] and Wnt family member 3A (WNT3A) [NM_033131.3: c.377G>A, p. (Arg126His)]. As compared with single-variant LRP5 carriers, double-variant carriers had a significantly lower BMD Z-score (-4.1 ± 0.8) and higher mean number of fractures (6.0 ± 2.8 vs. 2.2 ± 1.9). Analysis of the family segregation suggests the inheritance of BMD trait. CONCLUSION: Severe forms of EOOP may occur with carriage of 2 pathogenic variants in genes encoding regulators of the Wnt signaling pathway. Two-variant carriers of Wnt pathway genes had severe EOOP. Moreover, DKK1 and WNT3A genes should be included in next-generation sequence analyses of bone fragility.


Asunto(s)
Péptidos y Proteínas de Señalización Intercelular/genética , Proteína-5 Relacionada con Receptor de Lipoproteína de Baja Densidad/genética , Osteoporosis/genética , Fenotipo , Proteína Wnt3A/genética , Adolescente , Adulto , Edad de Inicio , Femenino , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/patología
11.
Sci Rep ; 10(1): 4699, 2020 03 13.
Artículo en Inglés | MEDLINE | ID: mdl-32170149

RESUMEN

In achondroplasia, lumbar spinal stenosis arises from congenital dysplasia and acquired degenerative changes. We here aimed to describe the changes of the lumbar spinal canal and intervertebral disc in adults. We included 18 adults (age ≥ 18 years) with achondroplasia and lumbar spinal stenosis. Radiographs were used to analyze spinal-pelvic angles. Antero-posterior diameter of the spinal canal and the grade of disc degeneration were measured by MRI. Antero-posterior diameters of the spinal canal differed by spinal level (P < 0.05), with lower values observed at T12-L1, L1-2 and L2-3. Degrees of disc degeneration differed by intervertebral level, with higher degrees observed at L1-2, L2-3 and L3-4. A significant correlation was found between disc degeneration and thoraco-lumbar kyphosis at L2-3, between antero-posterior diameter of the spinal canal and lumbar lordosis at T12-L1 and L2-3, and between antero-posterior diameter of the spinal canal and thoraco-lumbar kyphosis at L1-2. Unlike the general population, spinal stenosis and disc degeneration involve the upper part of the lumbar spine in adults with achondroplasia, associated with thoraco-lumbar kyphosis and loss of lumbar lordosis.


Asunto(s)
Acondroplasia/patología , Degeneración del Disco Intervertebral/patología , Vértebras Lumbares/patología , Estenosis Espinal/patología , Acondroplasia/diagnóstico por imagen , Adulto , Femenino , Humanos , Degeneración del Disco Intervertebral/diagnóstico por imagen , Vértebras Lumbares/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Radiografía , Estenosis Espinal/diagnóstico por imagen
13.
Eur J Phys Rehabil Med ; 56(4): 438-443, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31742369

RESUMEN

BACKGROUND: The diagnosis of adhesive capsulitis is currently based on restricted range of motion (ROM) but its diagnostic value has only been rarely investigated. AIM: The aim of this study is to assess the diagnostic value of active global and passive gleno-humeral ROM to diagnose shoulder adhesive capsulitis. DESIGN: Cross-sectional descriptive study. SETTING: One French center for Rehabilitation Medicine. POPULATION: Patients referred for treatment of shoulder adhesive capsulitis in our center were included. Inclusion criteria were: shoulder pain; limitation of active global ROM (abduction or flexion <180°); limitation of passive gleno-humeral ROM (abduction or flexion <90° or 25% reduction at less of lateral rotation versus the opposite shoulder); no gleno-humeral arthropathy on radiography. METHODS: The volume of the gleno-humeral capsule was assessed during a procedure of arthro-distension. The reference criterion for adhesive capsulitis was a volume <12 mL. We analyzed the correlation between the parameters of mobility and the volume of the gleno-humeral capsule; and the positive predictive value (PPV) of inclusion criteria, with the reference criterion for the diagnosis of adhesive capsulitis. RESULTS: We included 38 patients. Passive gleno-humeral ROM in abduction only was correlated with volume of the gleno-humeral capsule: r=0.33, P=0.043. The PPV of inclusion criteria was 82% for the diagnosis of shoulder adhesive capsulitis. Rather than 90°, when we considered 80°, 60° and 40° as the threshold of passive gleno-humeral ROM in abduction, the PPV increased from 83% to 100%. CONCLUSIONS: Passive gleno-humeral ROM in abduction is correlated with volume of the gleno-humeral capsule. The PPV is high for active global and passive gleno-humeral ROM for diagnosis of shoulder adhesive capsulitis. CLINICAL REHABILITATION IMPACT: Limitation of active and passive shoulder ROM, especially passive abduction gleno-humeral, is a good criterion to diagnose shoulder adhesive capsulitis, in patients with shoulder pain and no gleno-humeral arthropathy on radiography.


Asunto(s)
Bursitis/diagnóstico , Bursitis/fisiopatología , Cápsula Articular/fisiopatología , Rango del Movimiento Articular/fisiología , Adulto , Anciano , Betametasona/administración & dosificación , Medios de Contraste/administración & dosificación , Estudios Transversales , Femenino , Humanos , Inyecciones Intraarticulares , Lidocaína/administración & dosificación , Masculino , Persona de Mediana Edad
17.
Clin Rehabil ; 33(2): 277-284, 2019 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30175601

RESUMEN

OBJECTIVE:: To compare psychometric properties of Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire, Shoulder Pain and Disability Index (SPADI) and Constant-Murley scale, in patients with degenerative rotator cuff disease (DRCD). DESIGN:: Longitudinal cohort. SETTING:: One French university hospital. METHODS:: The scales were applied twice at one-week interval before physiotherapy and once after physiotherapy two months later. The perceived improvement after treatment was self-assessed on a numerical scale (0-4). The test-retest reliability of the DASH, SPADI and Constant-Murley scales was assessed before treatment by the intraclass correlation coefficient (ICC). The responsiveness was assessed by the paired t-test ( P < 0.05) and standardized mean difference (SMD). The correlation between the percentage of variation in scale scores and the self-assessed improvement score after treatment was measured by the Spearman coefficient. RESULTS:: Fifty-three patients were included. Twenty-six only were available for reliability. The test-retest reliability was very good for the DASH (ICC = 0.97), SPADI (0.95) and Constant-Murley (0.92). The scale score was improved after treatment for each scale ( P < 0.05). The SMD was moderate for the DASH (0.56) and SPADI (0.56) scales, and small for the Constant-Murley (0.44). The correlation between the percentage of variation in scores and self-assessed improvement score after treatment was high, moderate and not significant for the SPADI (0.59, P < 0.0001), DASH (0.42, P < 0.01) and Constant-Murley scales, respectively. CONCLUSION:: The test-retest reliability of the DASH, SPADI and Constant-Murley scales is very good for patients with DRCD. The highest responsiveness was achieved with the SPADI.


Asunto(s)
Lesiones del Manguito de los Rotadores/fisiopatología , Lesiones del Manguito de los Rotadores/psicología , Artropatía por Desgarro del Manguito de los Rotadores/fisiopatología , Artropatía por Desgarro del Manguito de los Rotadores/psicología , Extremidad Superior/fisiopatología , Adulto , Anciano , Estudios de Cohortes , Evaluación de la Discapacidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Psicometría , Reproducibilidad de los Resultados , Manguito de los Rotadores , Lesiones del Manguito de los Rotadores/complicaciones , Artropatía por Desgarro del Manguito de los Rotadores/diagnóstico , Autoevaluación (Psicología) , Dolor de Hombro/etiología , Dolor de Hombro/fisiopatología , Dolor de Hombro/psicología , Encuestas y Cuestionarios
18.
Semin Intervent Radiol ; 35(4): 309-323, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30402014

RESUMEN

Percutaneous vertebral augmentation/consolidation techniques are varied. These are vertebroplasty, kyphoplasty, and several methods with percutaneous introduction of an implant (associated or not with cement injection). They are proposed in painful osteoporotic vertebral fractures and traumatic fractures. The objectives are to consolidate the fracture and, if possible, to restore the height of the vertebral body to reduce vertebral and regional kyphosis. Stabilization of the fracture leads to a reduction in pain and thus restores the spinal support function as quickly as possible, which is particularly important in the elderly. The effectiveness of these interventions on fracture pain was challenged once by two randomized trials comparing vertebroplasty to a sham intervention. Since then, many other randomized studies in support of vertebroplasty efficacy have been published. International recommendations reserve vertebroplasty for medical treatment failures on pain, but earlier positioning may be debatable if the objective is to limit kyphotic deformity or even reexpand the vertebral body. Recent data suggest that in osteoporotic fracture, the degree of kyphosis reduction achieved by kyphoplasty and percutaneous implant techniques, compared with vertebroplasty, is not sufficient to justify the additional cost and the use of a somewhat longer and traumatic procedure. In young patients with acute traumatic fractures and a significant kyphotic angle, kyphoplasty and percutaneous implant techniques are preferred to vertebroplasty, as in these cases a deformity reduction has a significant positive impact on the clinical outcome.

19.
JBMR Plus ; 2(1): 12-21, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30283887

RESUMEN

Genetic determinants contribute to osteoporosis and enhance the risk of fracture. Genomewide association studies of unselected population-based individuals or families have identified polymorphisms in several genes related to low bone density, but not in osteoporotic patients with Z-score < -2.0 SD with fragility fracture(s). The aim of this study was to determine the causal genes of idiopathic osteoporosis in the adulthood. Also, we used next-generation sequencing of candidate genes in a cohort of 123 young or middle-aged adults with idiopathic osteoporosis. All patients were included if they had a low bone mineral density (Z-score < -2 SD), a diagnosis before age 55 years (mean ± SD, 48.4 ± 10.6 years; mean ± SD age at first fracture, 30.4 ± 17.4 years) and fracture or not. We found that 11 patients carried rare or novel variants in COL1A2 (n = 4), PLS3 (n = 2), WNT1 (n = 4), or DKK1 (n = 1). We showed a high prevalence of pathogenic variants in LRP5: 22 patients (17.8%) had the p.Val667Met variant, including three at the homozygous level and 16 (13%) carrying a novel or very rare variant. Functional analysis revealed that the LRP5 missense variants resulted in reduced luciferase activity, which indicates reduced activation of canonical WNT signaling. The clinical phenotype of patients carrying causal gene variants was indistinguishable. In conclusion, molecular screening of young osteoporotic adults revealed several variants and could be useful to characterize susceptibility genes for personalizing treatment, in particular for the new anabolic drugs.© 2017 The Authors. JBMR Plus is published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research.

20.
Eur J Nucl Med Mol Imaging ; 45(10): 1710-1720, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29532101

RESUMEN

PURPOSE: Oncogenic osteomalacia is an endocrine disorder induced by small benign tumours (TIO) producing excessive fibroblast growth factor-23 (FGF23). The only way of curing oncogenic osteomalacia is surgical resection of the culprit TIO, which is extremely difficult to detect using conventional imaging modalities due to its small size and variable location in the body. Since TIO frequently overexpress somatostatin receptors, a clinical utility of SPECT or PET with radiolabelled somatostatin analogues has been reported. Among them, 68Ga-DOTA-TOC has recently been granted a marketing authorization, facilitating its routine application. We report here the results of the first series evaluating the diagnostic performance of 68Ga-DOTA-TOC PET/CT in detecting TIO and its impact on patient management. METHODS: 68Ga-DOTA-TOC PET/CT and clinical and imaging data from 15 patients with clinical and biochemical signs of oncogenic osteomalacia were retrospectively reviewed. The 68Ga-DOTA-TOC PET/CT findings were compared with the results of post-surgical pathology and clinical and biochemical follow-up. RESULTS: 68Ga-DOTA-TOC PET/CT resulted in the detection of one focus suspicious for TIO in nine of 15 patients (60%), and a tumour was surgically removed in eight. Post-operative pathology confirmed a TIO in those eight patients whose symptoms diminished promptly and biochemical anomalies resolved. 68Ga-DOTA-TOC PET/CT sensitivity, specificity and accuracy were 73%, 67% and 71%, respectively. 68Ga-DOTA-TOC PET/CT findings affected patient management in 67% of cases. In particular, 68Ga-DOTA-TOC PET/CT was able to detect the TIO with a negative or a false-positive result of a previous 111In-pentetreotide SPECT/CT in 5/8 patients (63%) or a previous FDG PET/CT in 7/11 patients (64%). No close relationship was found between the positivity of 68Ga-DOTA-TOC PET/CT and the serum level of a biochemical marker. However, a true-positive result of 68Ga-DOTA-TOC PET/CT was obtained in only one patient with a non-elevated serum level of FGF23. CONCLUSION: 68Ga-DOTA-TOC PET/CT is an accurate imaging modality in the detection of TIO; in particular, it is worthwhile after failure of somatostatin receptor SPECT(/CT) or FDG PET/CT.


Asunto(s)
Neoplasias/complicaciones , Neoplasias/diagnóstico por imagen , Compuestos Organometálicos , Osteomalacia/complicaciones , Tomografía Computarizada por Tomografía de Emisión de Positrones , Anciano , Anciano de 80 o más Años , Femenino , Factor-23 de Crecimiento de Fibroblastos , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
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