Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most frequent late-onset muscular dystrophies, characterized by progressive fatty replacement and degeneration involving single muscles in an asynchronous manner. With clinical trials at the horizon in this disease, the knowledge of its natural history is of paramount importance to understand the impact of new therapies. The aim of this study was to assess disease progression in FSHD using qualitative muscle magnetic resonance imaging, with a focus on the evolution of hyperintense lesions identified on short-tau inversion recovery (STIR+) sequences, hypothesized to be markers of active muscle injury.

A rare case of non-traumatic intrasplenic pseudoaneurysms in a patient with acute T-cell lymphoblastic leukemia.

Pseudoaneurysm (PSA) or false aneurysm is a vascular lesion resulting from a focal and incomplete rupture of the arterial wall (intimate and/or elastic lamina), that allows blood to escape into the arterial wall; this small contained break causes a contained collection of blood and the creation of a "new" less resistant vessel wall, consisting of adventitia and perivascular tissues. Intrasplenic pseudoaneurysms are rare and more frequently recognize traumatic origin, sometimes are also unexpected lesions due to non-recent trauma. In contrast, non-traumatic intrasplenic pseudoaneurysms are rare complications usually due to splenic infarction, infiltration by malignant systemic disorders, infectious process, chronic pancreatitis, and arteritis.

Kasabach-Merritt syndrome arising from a vascular fistula.

A 58-year-old woman presented with gum bleeding, hematuria, and cutaneous ecchymoses. Left hip replacement had been performed five years prior. The overall findings of our work-up were consistent with ongoing DIC triggered by the presence of an arterio-venous left femoral fistula.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

We present the clinical, morphological and molecular data of an Italian family with centronuclear myopathy, carrying a novel pathogenic mutation of BIN1 gene in heterozygous state, consistent with autosomal dominant inheritance. The proband, a 56-years-old man suffered of lower limbs myalgia and slight CK elevation. Clinical examination revealed no muscle weakness, short stature, mild symmetric eyelid ptosis, scapular winging, ankle retraction and well-developed muscles.

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials.

Objective: Therapeutic perspectives have brought attention to the development of instruments to accurately evaluate the degree of pathology in patients with facioscapulohumeral muscular dystrophy. We aimed to analyze the type and extent of muscle involvement on magnetic resonance imaging (MRI) in a large cohort of patients representative of the broad clinical spectrum of this disease.

Methods: Pelvic and lower limb muscle MRI scans of 269 symptomatic individuals and 19 nonpenetrant gene carriers were assessed.

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

Background: In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment.

Methods: We propose an MRI protocol evaluating neck and upper girdle muscles.

Muscle MRI in Becker muscular dystrophy.

The aim of this study was to evaluate pelvis and lower limb muscle MRI scans of 46 patients affected by Becker muscular dystrophy (BMD), subdivided according to disease severity, ranging from clinically asymptomatic patients to patients who had lost ambulation. We found a distinct pattern on muscle imaging characterized by prominent involvement of the gluteus maximus and medius, adductor magnus, biceps femoris long head, semimembranosus and vasti. This pattern was consistent in all the 25 symptomatic patients.

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease.

New phenotype and pathology features in MYH7-related distal myopathy.

Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, hand finger extensors and neck flexors, and unspecific findings on muscle biopsy. We identified the first two Italian families with Laing distal myopathy, harboring two novel mutations in the MYH7 gene and performed clinical, neurophysiological, pathological, muscle MRI and cardiological investigations on affected members from the two families.

Muscle imaging findings in GNE myopathy.

GNE myopathy (MIM 600737) is an autosomal recessive muscle disease caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Besides the typical phenotype, characterized by the initial involvement of the distal leg muscles that eventually spreads proximally with sparing of the quadriceps, uncommon presentations with a non-canonical clinical phenotype, unusual muscle biopsy findings or both are increasingly recognized. The aim of our study was to characterize the imaging pattern of pelvic and lower limb muscles in GNE myopathy, thus providing additional diagnostic clues useful in the identification of patients with atypical features.

Evolution of digital angiography systems.

The innovations introduced by digital subtraction angiography in digital radiography are briefly illustrated with the description of its components and functioning. The pros and cons of digital subtraction angiography are analyzed in light of present and future imaging technologies. In particular, among advantages there are: automatic exposure, digital image subtraction, digital post-processing, high number of images per second, possible changes in density and contrast.