A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy

Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies. We describe a family affected by a distal myopathy with autosomal dominant inheritance. The onset of the disease was in the third decade with gait impairment due to distal leg weakness. Subsequently, the disease progressed with an involvement of proximal lower limbs and hand muscles. Muscle biopsy, performed in one subject,identified relevant myofibrillar abnormalities. We performed a target gene panel testing for myofibrillar myopathies by NGS approach which identified a novel mutation in exon 3 of FLNC gene (c.A664G:p.M222V), within the N-terminal actin-binding (ABD) domain. This variant has been identified in all affected members of the family, thus supporting its pathogenic role. Differently from previously identified variants, our family showed a predominant leg involvement and myofibrillar aggregates, thus further expanding the spectrum of Filamin C related myopathies

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

Subspecialty Second-Opinion in Multiple Myeloma CT: Emphasis on Clinically Significant Lytic Lesions

Background and objectives: In order to increase the accuracy of lytic lesion detection in multiple myeloma, a dedicated second-opinion interpretation of medical images performed by subspecialty musculoskeletal radiologists could increase accuracy. Therefore, the purpose of this study is to evaluate the added value (increased accuracy) of subspecialty second-opinion (SSO) consultations for Computed Tomography (CT) examinations in Multiple Myeloma (MM) patients undergoing stem cell transplantation on standard computed tomography with a focus on focal lesion detection. Materials and Methods: Approval from the institutional review board was obtained. This retrospective study included 70 MM consecutive patients (mean age, 62 years &plusmn; 11.3 (standard deviation); range, 35&ndash;88 years) admitted in the last six years. Pre-transplant total-body CT (reported by general radiologists) was the only inclusion criteria. Each of these CT examinations had a second-opinion interpretation by two experienced subspecialty musculoskeletal (MSK) radiologists (13 years of experience and 6 years of experience, mean: 9.5 years), experts in musculoskeletal radiology and bone image interpretation with a focus on lytic lesions. Results: Per lesion intra- and inter-observer agreement between the two radiologists was calculated with K statistics and the results were good (K = 0.67: Confidence Inteval (CI) 95%: 0.61&ndash;0.78). When the initial CT reports were compared with the re-interpretation reports, 46 (65%) of the 70 cases (95% CI: 37&ndash;75%) had no discrepancy. There was a discrepancy in detecting a clinically unimportant abnormality in 10/70 (14%) patients (95% CI: 7&ndash;25%) unlikely to alter patient care or irrelevant to further clinical management. A discrepancy in interpreting a clinically important abnormality was registered in 14/70 (21%) patients for focal lesions. The mean diameter of focal lesions was: 23 mm (95% CI: 5&ndash;57 mm). The mean number of focal lesions per patient was 3.4 (95% CI). Conclusions: subspecialty second-opinion consultations in multiple myeloma CT is more accurate to identify lesions, especially lytic lesions, amenable to influence patients&rsquo; care

Myeloma Spine and Bone Damage Score (MSBDS) on Whole-Body Computed Tomography (WBCT): Multiple Reader Agreement in a Multicenter Reliability Study

Objective: To assess the reliability of the myeloma spine and bone damage score (MSBDS) across multiple readers with different levels of expertise and from different institutions. Methods: A reliability exercise, including 104 data sets of static images and complete CT examinations of patients affected by multiple myeloma (MM), was performed. A complementary imaging atlas provided detailed examples of the MSBDS scores, including low-risk and high-risk lesions. A total of 15 readers testing the MSBDS were evaluated. ICC estimates and their 95% confidence intervals were calculated based on mean rating (k = 15), absolute agreement, a two-way random-effects model and Cronbach&rsquo;s alpha. Results: Overall, the ICC correlation coefficient was 0.87 (95% confidence interval: 0.79&ndash;0.92), and the Cronbach&rsquo;s alpha was 0.93 (95% confidence interval: 0.94&ndash;0.97). Global inter- and intra-observer agreement among the 15 readers with scores below or equal to 6 points and scores above 6 points were 0.81 (95% C.I.: 0.72&ndash;0.86) and 0.94 (95% C.I.:0.91&ndash;0.98), respectively. Conclusion: We present a consensus-based semiquantitative scoring systems for CT in MM with a complementary CT imaging atlas including detailed examples of relevant scoring techniques. We found substantial agreement among readers with different levels of experience, thereby supporting the role of the MSBDS for possible large-scale applications. Significance and Innovations &bull; Based on previous work and definitions of the MSBDS, we present real-life reliability data for quantitative bone damage assessment in multiple myeloma (MM) patients on CT. &bull; In this study, reliability for the MSBDS, which was tested on 15 readers with different levels of expertise and from different institutions, was shown to be moderate to excellent. &bull; The complementary CT imaging atlas is expected to enhance unified interpretations of the MSBDS between different professionals dealing with MM patients in their routine clinical practice

How Can Imaging Help the Radiation Oncologist in Multiple Myeloma Treatment

Multiple myeloma is an incurable malignant tumor of plasma cells of the bone marrow; most patients present a disseminated disease with important bone involvement. Even though a chemotherapy-based approach is the major treatment, radiotherapy often has a supportive role for symptom relief but also a radical role for patients with indolent disease or localized forms. In both cases imaging is the basis for treatment planning and for correct patient classification. This paper aims to describe and summarize how radiation oncologists could use imaging information to personalize the treatment for each patient

Artificial Intelligence in Breast Ultrasound: From Diagnosis to Prognosis—A Rapid Review

Background: Ultrasound (US) is a fundamental diagnostic tool in breast imaging. However, US remains an operator-dependent examination. Research into and the application of artificial intelligence (AI) in breast US are increasing. The aim of this rapid review was to assess the current development of US-based artificial intelligence in the field of breast cancer. Methods: Two investigators with experience in medical research performed literature searching and data extraction on PubMed. The studies included in this rapid review evaluated the role of artificial intelligence concerning BC diagnosis, prognosis, molecular subtypes of breast cancer, axillary lymph node status, and the response to neoadjuvant chemotherapy. The mean values of sensitivity, specificity, and AUC were calculated for the main study categories with a meta-analytical approach. Results: A total of 58 main studies, all published after 2017, were included. Only 9/58 studies were prospective (15.5%); 13/58 studies (22.4%) used an ML approach. The vast majority (77.6%) used DL systems. Most studies were conducted for the diagnosis or classification of BC (55.1%). At present, all the included studies showed that AI has excellent performance in breast cancer diagnosis, prognosis, and treatment strategy. Conclusions: US-based AI has great potential and research value in the field of breast cancer diagnosis, treatment, and prognosis. More prospective and multicenter studies are needed to assess the potential impact of AI in breast ultrasound

Artificial Intelligence in Breast Ultrasound: From Diagnosis to Prognosis&mdash;A Rapid Review

Background: Ultrasound (US) is a fundamental diagnostic tool in breast imaging. However, US remains an operator-dependent examination. Research into and the application of artificial intelligence (AI) in breast US are increasing. The aim of this rapid review was to assess the current development of US-based artificial intelligence in the field of breast cancer. Methods: Two investigators with experience in medical research performed literature searching and data extraction on PubMed. The studies included in this rapid review evaluated the role of artificial intelligence concerning BC diagnosis, prognosis, molecular subtypes of breast cancer, axillary lymph node status, and the response to neoadjuvant chemotherapy. The mean values of sensitivity, specificity, and AUC were calculated for the main study categories with a meta-analytical approach. Results: A total of 58 main studies, all published after 2017, were included. Only 9/58 studies were prospective (15.5%); 13/58 studies (22.4%) used an ML approach. The vast majority (77.6%) used DL systems. Most studies were conducted for the diagnosis or classification of BC (55.1%). At present, all the included studies showed that AI has excellent performance in breast cancer diagnosis, prognosis, and treatment strategy. Conclusions: US-based AI has great potential and research value in the field of breast cancer diagnosis, treatment, and prognosis. More prospective and multicenter studies are needed to assess the potential impact of AI in breast ultrasound

Muscle mass estimation on breast magnetic resonance imaging in breast cancer patients: comparison between psoas muscle area on computer tomography and pectoralis muscle area on MRI

Objectives: To evaluate the correlation between psoas muscle area (TPA) on CT images and pectoralis muscle area (PMA) on MRI in breast cancer patients. Methods: This retrospective study was institutional review board approved and women involved gave written informed consent. Twenty six patients with both body CT and breast MRI available were evaluated. Two radiologists calculated TPA on 1.25-mm and 5-mm body CT images. Two radiologists measured PMA on axial T1-weighted images. Statistical analysis included inter- and intra-reader agreement and correlation between TPA on CT and PMA on MRI. Results: The Pearson r correlation coefficient was 0.70 (95% CI 0.41\u20130.81) and the coefficient of determination was 0.49. The inter-reader agreement was k = 0.85 and k = 0.79 for axial 1.25-mm and 5-mm CT images, respectively. The intra-reader agreement of reader 1 was k = 0.98 and k = 0.94 for 1.25-mm and 5-mm CT images, respectively. The intra-reader agreement of reader 2 was k = 0.95 and k = 0.94 for 1.25-mm and 5-mm CT images, respectively. On axial T1-weighted images, the inter-reader agreement for radiologists evaluating the PMA was k = 0.61. Intra-observer agreement of reader 1 and reader 2 for PMA estimation was good (0.62 and 0.64), respectively. Conclusion: The correlation between TPA on CT images and PMA on MRI was very good. Pectoralis muscle area on breast MRI could be useful to estimate muscle mass in women with breast cancer. Key Points: \u2022 Pectoralis muscle area can be estimated on breast MRI \u2022 Total psoas area on CT and pectoralis muscle area on MRI are strongly correlated \u2022 Pectoralis muscle area on breast MRI could estimate the skeletal muscle mass

Ankle and Foot Ultrasound: Reliability of Side\u2010to\u2010Side Comparison of Small Anatomic Structures

Objectives: In sonography of clinically relevant small structures of the ankle and foot, the healthy contralateral side can be used as a reference to identify subtle abnormalities. Intrasubject side-to-side variability must be minimal. The aim of this study was to assess the reliability of side-to-side sonographic evaluation of small structures of the ankle and foot. Methods: Thirty healthy volunteers were prospectively studied. Small structures of the ankle and foot were evaluated bilaterally by 2 musculoskeletal radiologists in separate sessions. The deep peroneal nerve, superior extensor retinacula, calcaneofibular ligament, superior peroneal retinacula, tibialis posterior tendon, tibial nerve, Achilles tendon, plantaris tendon, plantar fascia, and sural nerve were considered. To assess intra- and interreader agreements, 30 (100%) examinations were repeated. A nonparametric statistic was used. Results: Data were not normally distributed (P &gt;.001). Intrareader agreement was k = 0.67 (95% confidence interval, 0.57\u20130.78) and interreader agreement was k = 0.73 (95% confidence interval, 0.68\u20130.77). The mean values and standard deviation for all the structures were 0.36 \ub1 1.85 mm. The overall coefficient of variation was 18.5%. The intraclass correlation coefficient was 0.93 (95% confidence interval, 0.92\u20130.94). Conclusions: In ankle and foot sonography, the healthy contralateral side can be used as a reference during a real-time musculoskeletal ultrasound evaluation of small structures