Imaging biomarkers as outcome measures for hereditary and acquired neuromuscular diseases

The generic term biomarkers applies to all detection methods used in the life sciences and may be defined as any detectable biologic parameter, whether biochemical, genetic, histologic, anatomic, physical, functional, or metabolic. By logical extension, we define imaging biomarkers as any anatomic, physiologic, biochemical, or molecular parameter detectable with one or more diagnostic imaging tools for establishing the presence and/or severity of disease. The importance of medical imaging for clinical decision making has been steadily increasing over the last four decades. Recently, there has also been an emphasis on medical imaging for preclinical decision making, i.e., for use in pharamaceutical and medical device development. There is also a drive towards quantification of imaging findings by using quantitative imaging biomarkers, which can improve sensitivity, specificity, accuracy and reproducibility of imaged characteristics used for diagnostic and therapeutic decisions. During the three-years Phd project, in collaboration with the Radiology Department of Poliliclinico San Martino/ Dipartimento di Scienze della Salute, the Neurology Unit of Policlinico San Martino / Dipartimento di Scienza della Salute and the Anatomy Departement of University of Barcelona/Campus Bellvitge, the clinical applications of new or recently developed imaging biomarkers based on High Resolution Ultrasound (HRUS) a Magnetic Resonance (MR) in the field of neuromuscular diseases have been indagated. The recent advancements in Ultrasound technology enabled a high resolution and Ultra-High resolution imaging of peripheral nerves. In this regard, the fascicular imaging application in the diagnosis of posterior interosseous nerve and the motor branch of median nerve have been subject of two clinical study. The availability of a 7 tesla MR in the Animal facility of Policlinico San Martino allowed an high-tech study on a murin model of Charcot-Marie-Tooth neuropathy 1B, providing new insight into the pathogenesis of this condition. Regarding the myopathies, a specific focus was sarcopenia and the Ultrasound-derived quantitative and semiquantitative parameters to identify this common condition, to stratify the disease severity and to facilitate the patient monitoring overtime

Ultrasound of the plantar foot: a guide for the assessment of plantar intrinsic muscles

Plantar intrinsic muscles play a pivotal role in posture control and gait dynamics. They help maintain the longitudinal and transverse arches of the foot, and they regulate the degree and velocity of arch deformation during walking or running. Consequently, pathologies affecting the plantar intrinsic muscles (for instance, acquired and inherited neuropathies) lead to foot deformity, gait disorders, and painful syndromes. Intrinsic muscle malfunctioning is also associated with multifactorial overuse or degenerative conditions such as pes planus, hallux valgus, and plantar fasciitis. As the clinical examination of each intrinsic muscle is challenging, ultrasound is gaining a growing interest as an imaging tool to investigate the trophism of these muscular structures and the pattern of their alterations, and potentially to follow up on the effects of dedicated rehabilitation protocols. The ten plantar intrinsic muscles can be dived into three groups (medial, central and lateral) and four layers. Here, we propose a regional and landmark-based approach to the complex sonoanatomy of the plantar intrinsic muscles in order to facilitate the correct identification of each muscle from the superficial to the deepest layer. We also summarize the pathological ultrasound findings that can be encountered when scanning the plantar muscles, pointing out the patterns of alterations specific to certain conditions, such as plantar nerves mononeuropathies

High-resolution ultrasound of spigelian and groin hernias: a closer look at fascial architecture and aponeurotic passageways

From the clinical point of view, a proper diagnosis of spigelian, inguinal and femoral hernias may be relevant for orienting the patient's management, as these conditions carry a different risk of complications and require specific approaches and treatments. Imaging may play a significant role in the diagnostic work-up of patients with suspected abdominal hernias, as the identification and categorization of these conditions is often unfeasible on clinical ground. Ultrasound imaging is particularly suited for this purpose, owing to its dynamic capabilities, high accuracy, low cost and wide availability. The main limitation of this technique consists of its intrinsic operator dependency, which tends to be higher in difficult-to-scan areas such as the groin because of its intrinsic anatomic complexity. An in-depth knowledge of the anatomy of the lower abdominal wall is, therefore, an essential prerequisite to perform a targeted ultrasound examination and discriminate among different types of regional hernias. The aim of this review is to provide a detailed analysis of the fascial architecture and aponeurotic passageways of the abdominal wall through which spigelian, inguinal and femoral hernias extrude, by means of schematic drawings, ultrasound images and video clips. A reasoned landmark-based ultrasound scanning technique is described to allow a prompt and reliable identification of these pathologic conditions

Ultrasound assessment of degenerative muscle sarcopenia: the University of Barcelona ultrasound scoring system for sarcopenia

AimThis study aimed to (1) determine the intraobserver and interobserver reliability of ultrasonographic measurement of muscle thickness (MT) and cross-sectional area (CSA) of the rectus femoris and biceps brachii, correlating these values with manual measurements on dissected cadavers and (2) develop the first semiquantitative musculoskeletal ultrasound (MSUS) scoring system of muscle morphology in sarcopenia and assess its intraobserver and interobserver reliability. In addition, the MSUS morphology score was compared with the corresponding histological images to verify concurrent validity.MethodsTen cryopreserved limbs of 10 cadavers aged 68-91 years were evaluated. The MSUS scoring system was based on the severity of muscle degeneration on a 3-point qualitative scale: grade 1 (normal), grade 2 (moderate changes) and grade 3 (severe changes). Reliability was assessed with intraclass correlation coefficient (ICC) for the MT and CSA and with Cohen's kappa coefficients (& kappa;) for the MSUS scoring system. Concurrent validity was analysed with ICC.ResultsThe results showed excellent intraobserver and interobserver reliability for both the MSUS evaluation of MT and CSA (ICC & GE;0.93). The MSUS scoring system showed excellent intraobserver reliability (& kappa;=1.0) and very good interobserver reliability (& kappa;=0.85). There was also a high intra- and inter-observer reliability for the histological scorings (& kappa; & GE;0.85 and mean & kappa;=0.70, respectively), as well as high reliability between the histology and MSUS scoring systems (ICC=0.92). All results were statistically significant (p & LE;0.001).ConclusionMSUS measures of MT and CSA and the novel MSUS scoring system for degenerative muscle changes in sarcopenia was found to be reliable and strongly associated with histological findings

Ultrasound of the palmar aspect of the hand: normal anatomy and clinical applications of intrinsic muscles imaging

Intrinsic hand muscles play a fundamental role in tuning the fine motricity of the hand and may be affected by several pathologic conditions, including traumatic injuries, atrophic changes induced by denervation, and space-occupying masses. Modern hand surgery techniques allow to target several hand muscle pathologies and, as a direct consequence, requests for hand imaging now carry increasingly complex diagnostic questions. The progressive refinement of ultrasound technology and the current availability of high and ultra-high frequency linear transducers that allow the investigation of intrinsic hand muscles and tendons with incomparable resolution have made this modality an essential tool for the evaluation of pathological processes involving these tiny structures. Indeed, intrinsic hand muscles lie in a superficial position and are amenable to investigation by means of transducers with frequency bands superior to 20 MHz, offering clear advantages in terms of resolution and costs compared to magnetic resonance imaging. In addition, ultrasound allows to perform dynamic maneuvers that can critically enhance its diagnostic power, by examining the questioned structure during stress tests that simulate the conditions eliciting clinical symptoms. The present article aims to review the anatomy, the ultrasound scanning technique, and the clinical application of thenar, hypothenar, lumbricals and interossei muscles imaging, also showing some examples of pathology involving these structures

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts

Clinical indications for image-guided interventional procedures in the musculoskeletal system: a Delphi-based consensus paper from the European Society of Musculoskeletal Radiology (ESSR)-part VII, nerves of the lower limb.

Funder: Università degli Studi di MilanoOBJECTIVES: To perform a Delphi-based consensus on published evidence on image-guided interventional procedures for peripheral nerves of the lower limb (excluding Morton's neuroma) and provide clinical indications. METHODS: We report the results of a Delphi-based consensus of 53 experts from the European Society of Musculoskeletal Radiology who reviewed the published literature for evidence on image-guided interventional procedures offered around peripheral nerves in the lower limb (excluding Morton's neuroma) to derive their clinical indications. Experts drafted a list of statements and graded them according to the Oxford Centre for evidence-based medicine levels of evidence. Consensus was considered strong when > 95% of experts agreed with the statement or broad when > 80% but < 95% agreed. The results of the Delphi-based consensus were used to write the paper. RESULTS: Nine statements on image-guided interventional procedures for peripheral nerves of the lower limb have been drafted. All of them received strong consensus. Image-guided pudendal nerve block is safe, effective, and well tolerated with few complications. US-guided perisciatic injection of anesthetic provides good symptom relief in patients with piriformis syndrome; however, the addition of corticosteroids to local anesthetics still has an unclear role. US-guided lateral femoral cutaneous nerve block can be used to provide effective post-operative regional analgesia. CONCLUSION: Despite the promising results reported by published papers on image-guided interventional procedures for peripheral nerves of the lower limb, there is still a lack of evidence on the efficacy of most procedures. KEY POINTS: • Image-guided pudendal nerve block is safe, effective, and well tolerated with few complications. • US-guided perisciatic injection of anesthetic provides good symptom relief in patients with piriformis syndrome; however, the addition of corticosteroids to local anesthetics still has an unclear role. • US-guided lateral femoral cutaneous nerve block can be used to provide effective post-operative regional analgesia. The volume of local anesthetic affects the size of the blocked sensory area

Extraneural findings during peripheral nerve ultrasound: Prevalence and further assessment

Introduction: In this study we evaluated the frequency and further assessment of extraneural findings encountered during peripheral nerve ultrasound (US). Methods: Our retrospective review identified 278 peripheral nerve US examinations of 229 patients performed between December 2014 and December 2015. Reports were reviewed to assess the number of studies without peripheral nerve abnormalities and the frequency and further assessment of extraneural findings. Results: A total of 107 peripheral nerve US examinations of 90 patients (49 men and 41 women, mean age 55 \uc2\ub1 16 years) did not report peripheral nerve abnormalities. Extraneural findings were observed in 24 of 107 (22.4%) studies. Fifteen of the 278 [5.4% (95% confidence interval 2.7%\ue2\u80\u938.1%)] studies led to a recommendation for additional imaging or clinical evaluation of an extraneural finding. Discussion: At least 5.4% (15 of 278) of peripheral nerve US studies led to additional clinical or imaging assessment

Breast Metastases: Updates on Epidemiology and Radiologic Findings

PurposeThe aim of this study was to report the prevalence of secondary breast malignancies and analyze their radiological characteristics.Materials and methodsWe collected 42,505 pathological reports of mammary biopsies performed from January 2000 to January 2019 in our hospital database, from which we screened reports of secondary cancer of the breast. We collected and analyzed imaging data from computed tomography (CT), ultrasound (US), and mammography. Mammograms, CT scans, and US images were reviewed by two breast radiologists. Prevalence of secondary breast malignancy among suspicious breast masses and all breast malignancies were calculated.ResultsOut of 42,505 histopathology reports from mammary biopsies, we found 19,354 malignancies. We identified 33 cases of secondary breast cancers (0.08% of suspicious breast lesions, 0.17% of breast malignancies). Most common metastases were from lymphoma (23 cases, 0.05% of suspicious breast lesions, 0.12% of breast malignancies) and melanoma (six cases, 0.01% of suspicious breast lesions, 0.03% of breast malignancies). All secondary lesions were hypoechoic on US and showed high density on mammogram. On CT, 83% of the lesions appeared solid/dense, and 17% were mixed, alternating areas of iso/hyperdensity with areas of hypodensity.ConclusionSecondary breast cancer had a prevalence of 0.17% among all breast malignancies. No specific imaging features, characteristic of secondary breast cancer, were found

Primary and Secondary Breast Lymphoma: Focus on Epidemiology and Imaging Features

Aim of this study was to select all the cases of Primary (PBL) and Secondary (SBL) Breast Lymphoma from our breast unit since 01/01/2000, to obtain up-to-date data on the prevalence of this rare pathology and to analyze imaging features, with a special focus on CT. All pathological reports of breast biopsies performed from 01/01/2000 to 01/01/2019 were at first screened. Among them, we performed two different researches, looking for key words suggesting either a diagnosis of lymphoma or any other malignant disease. Using the Wiseman criteria, we identify PBL and SBL. All imaging features of PBL and SBL were analyzed. Prevalence of lymphoma amongst suspicious breast masses and amongst all breast malignancies were calculated. Out of 42,505 histopathology reports from mammary nodule biopsies, we found 19,354 malignancies. We were able to identify 11 patients affected by PBL (0,03% of suspicious breast lesions, 0.06% of breast malignancies), and 23 cases of SBL (0,05% of suspicious breast lesions, 0,12% of breast malignancies). Most common isotype in PBL was DLBC lymphoma, whereas in SBL that resulted Follicular lymphoma. In PBL group, we were able to retrieve images&nbsp;7 CT or CT-PET study performed at diagnosis 7 US, 1 mammography and and 1 MR. In SBL group, we analyzed 14 CT/CT-PET examinations, 11 US studies and 3 mammography. PBL and SBL are rarer than considered until now. There is no definite imaging characteristic able to distinguish between these two pathologies and among them and breast cancer