Standardization of interstitial lung disease assessment by ultrasound: results from a Delphi process and web-reliability exercise by the OMERACT ultrasound working group.

OBJECTIVES: Over the last years ultrasound has shown to be an important tool for evaluating lung involvement, including interstitial lung disease (ILD) a potentially severe systemic involvement in many rheumatic and musculoskeletal diseases (RMD). Despite the potential sensitivity of the technique the actual use is hampered by the lack of consensual definitions of elementary lesions to be assessed and of the scanning protocol to apply. Within the Outcome Measures in Rheumatology (OMERACT) Ultrasound Working Group we aimed at developing consensus-based definitions for ultrasound detected ILD findings in RMDs and assessing their reliability in dynamic images. METHODS: Based on the results from a systematic literature review, several findings were identified for defining the presence of ILD by ultrasound (i.e., Am-lines, B-lines, pleural cysts and pleural line irregularity). Therefore, a Delphi survey was conducted among 23 experts in sonography to agree on which findings should be included and on their definitions. Subsequently, a web-reliability exercise was performed to test the reliability of the agreed definitions on video-clips, by using kappa statistics. RESULTS: After three rounds of Delphi an agreement >75 % was obtained to include and define B-lines and pleural line irregularity as elementary lesions to assess. The reliability in the web-based exercise, consisting of 80 video-clips (30 for pleural line irregularity, 50 for B-lines), showed moderate inter-reader reliability for both B-lines (kappa = 0.51) and pleural line irregularity (kappa = 0.58), while intra-reader reliability was good for both B-lines (kappa = 0.72) and pleural line irregularity (kappa = 0.75). CONCLUSION: Consensus-based ultrasound definitions for B-lines and pleural line irregularity were obtained, with moderate to good reliability to detect these lesions using video-clips. The next step will be testing the reliability in patients with ILD linked to RMDs and to propose a consensual and standardized protocol to scan such patients.

Adult attention deficit hyperactivity disorder in patients with fibromyalgia syndrome: Assessment and disabilities.

In the broader list of cognitive concerns, neuropsychological testing has shown that attentional impairment may have a specific burden in Fibromyalgia Syndrome (FMS). Preliminary observations have reported a subset of FMS patient screened for attention disorders fulfilling the actual diagnosis of ADHD, a neurodevelopmental disorder characterized by developmentally inadequate levels of inattention, hyperactivity and impulsivity that might persist in adulthood. Yet, no study to date has systematically examined the history and the specific contribution of ADHD to FMS in terms of clinical impact and related specific disabilities. In this study, 106 individuals with a FMS diagnosis based on the 2010 criteria of the American College of Rheumatology have been assessed for (a) the presence of ADHD; (b) the burden of disability caused by ADHD versus FMS; (c) the presence of other psychiatric disorders. Results indicated that ADHD was present in 24.5% of FMS individuals, it was associated with higher FMS symptoms severity and a greater functional impairment, particularly in the work/school domain. Moreover, patients with both FMS and ADHD had higher frequency of substance use disorders than those with FMS only (38.5% versus 3.8%) and mainly opioids. Overall, results suggest that ADHD can increase burden adding specific disability in work and social activities, and it is associated with a trend for the excessive use of opioid painkillers. Detection of neurodevelopmental and actual symptoms of ADHD is highly recommended especially in patient prone to increase the dose of anti-pain medication.

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care.

BACKGROUND: Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. METHODS: In this study, we monitored disease progression up to three years in eight young patients with PD. Based on the literature data and the long term personal experience, we selected validated functional scales for neuromuscular disorders and compared the results to identify a simple and reliable protocol for the follow-up of children with PD. Moreover, we evaluated cognitive functions using developmental/cognitive tests. RESULTS: Based on study results, we suggest that motor functions in children with PD could be better assessed by Chop Intend, MFM20 (Motor Function Measure Scale for Neuromuscular Diseases 20) and NSAA (North Star Ambulatory Assessment), according to age and functional level. Evaluation should be completed with ROM (Range Of Motion) measurement, MRC (Medical Research Council) evaluation and 6MWT (6 Minute Walk test) when possible. CONCLUSIONS: The proposed protocol seems to be reliable and should be done every six months, because of the progressive natural history of the disease, the rapid changes typical of developmental age and the need to document ERT effects. About cognitive functions, additional tests to classical intelligence scales (WISC, WPPSI) should be useful to better describe specific neuropsychological profile.

Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.

OBJECTIVE: To define the ultrasonographic characteristics of calcium pyrophosphate crystal (CPP) deposits in joints and periarticular tissues and to evaluate the intra- and interobserver reliability of expert ultrasonographers in the assessment of CPP deposition disease (CPPD) according to the new definitions. METHODS: After a systematic literature review, a Delphi survey was circulated among a group of expert ultrasonographers, who were members of the CPPD Ultrasound (US) Outcome Measures in Rheumatology (OMERACT) subtask force, to obtain definitions of the US characteristics of CPPD at the level of fibrocartilage (FC), hyaline cartilage (HC), tendon, and synovial fluid (SF). Subsequently, the reliability of US in assessing CPPD at knee and wrist levels according to the agreed definitions was tested in static images and in patients with CPPD. Cohen's κ was used for statistical analysis. RESULTS: HC and FC of the knee yielded the highest interobserver κ values among all the structures examined, in both the Web-based (0.73 for HC and 0.58 for FC) and patient-based exercises (0.55 for the HC and 0.64 for the FC). Kappa values for the other structures were lower, ranging from 0.28 in tendons to 0.50 in SF in the static exercise and from 0.09 (proximal patellar tendon) to 0.27 (triangular FC of the wrist) in the patient-based exercise. CONCLUSION: The new OMERACT definitions for the US identification of CPPD proved to be reliable at the level of the HC and FC of the knee. Further studies are needed to better define the US characteristics of CPPD and optimize the scanning technique in other anatomical sites.

Ultrasound assessment of the elbow.

Ultrasonography of the elbow is a very helpful and reliable diagnostic procedure for a broad spectrum of rheumatic and orthopedic conditions, representing a possible substitute to magnetic resonance imaging for evaluation of soft tissues of the elbow. Musculoskeletal ultrasound (US) shows many advantages over other imaging modalities, probably the most important being its capability to perform a dynamic assessment of musculoskeletal elements with patient's partnership and observation during examination. In addition, ultrasonography is cost effective, easy available, and has excellent and multiplanar capability to visualize superficial soft tissue structures. Among all imaging procedures, US is highly accepted by patients. US assessment of the elbow requires good operator experience in the assessment of normal anatomy, and suitable high-quality equipment. US of the elbow provides detailed information including joint effusions, medial and lateral epicondylitis, tears of the distal biceps and triceps tendons, radial and ulnar collateral ligament tears, ulnar nerve entrapment, cubital or olecranon bursitis and intra-articular loose bodies. The aim of this paper is to review the screening technique and the basic normal and pathological findings in elbow US.

Ultrasound elastography assessment of skin involvement in systemic sclerosis: lights and shadows.

OBJECTIVE: To assess skin elasticity in systemic sclerosis (SSc) by using a new imaging modality, ultrasound elastography (UE). METHODS: Our study included 18 consecutive patients with SSc and 15 healthy controls. Modified Rodnan skin score, physical examination, and assessment of organ involvement were performed. UE was carried out on the middle forearm and on the fingers of the dominant arm. The echo signals recorded in real time during freehand operations of probe compression and relaxation produced images representing tissue elasticity, consisting of translucent colored bands superimposed on the B-mode ultrasonographic images. The color scale varied within a large band spectrum from red, indicative of soft and highly elastic tissue, to blue, which denoted hard and barely elastic tissue. RESULTS: On the forearm of all patients, UE showed a homogeneous blue area corresponding to the dermis visualized in a B-mode ultrasonographic image; in controls, a blue pattern was never detected and a predominance of green with sporadic areas of pale blue was observed. At sequential evaluations, UE of fingers produced inconstant and changeable colored areas. CONCLUSION: The imaging pattern observed in the forearm of patients with SSc may represent the reduction of strain in the dermis due to loss of elasticity. The variable pattern obtained by finger evaluation demonstrated that UE can assess skin involvement in SSc only in those areas where the dermis is known to be thicker and where the bone hyperreflection is minimal. Further studies are needed to confirm our results and determine the validity of this new imaging modality.