Role of radiologic imaging in genetic and acquired neuromuscular disorders

Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i.e., serum creatine kinase (CK) and electrophysiology. Muscle biopsy represents the gold standard for the diagnosis of genetic neuromuscular diseases, but clinical imaging of muscle tissue is an important diagnostic tool to identify and quantifyies muscle damage. Radiologic imaging is, indeed, increasingly used as a diagnostic tool to describe patterns and the extent of muscle involvement, thanks to modern techniques that enable to definethe definition of degrees of muscle atrophy and changes in connective tissue. They usually grade the severity of the disease process with greater accuracy than clinical scores. Clinical imaging is more than complementary to perform muscle biopsy, especially as ultrasound scans are often mandatory to identify the muscle to be biopsied. We will here detail and provideWe will herein provide detailed examples of the radiologic methods that can be used in genetic and acquired neuromuscular disorders, stressing pros and cons

Conservative treatment for cystic duct stenosis in a child.

Introduction. Few cases of common bile duct stenosis have been reported in the literature, and observations of strictures in the cystic duct are even more rare. Surgical cholecystectomy is the treatment needed in most cases of gallbladder hydrops. This paper describes the diagnosis and successful medical treatment of a rare pediatric case of cystic duct stenosis and gallbladder hydrops. Case Report. A formerly healthy one-year-old girl was admitted with colicky abdominal pain. Blood tests were normal, except for an increase in transaminases. Abdominal ultrasound excluded intestinal intussusception and identified a distended gallbladder with biliary sludge. MR cholangiography revealed a dilated gallbladder containing bile sediment and no detectable cystic duct, while the rest of the intra- and extrahepatic biliary tree and hepatic parenchyma were normal. This evidence was consistent with gallbladder hydrops associated with cystic duct stenosis. The baby was treated with i.v. hydration, corticosteroids, antibiotics, and ursodeoxycholic acid. Her general condition rapidly improved, with no further episodes of abdominal pain and normalization of liver enzymes. This allowed to avoid cholecystectomy, and the child is well 1.5 years after diagnosis. Conclusions. Although cholecystectomy is usually necessary in case of gallbladder hydrops, our experience suggests that surgical procedures can be avoided when the distension is caused by a cystic duct stenosis

Synovial hemangioma of infrapatellar (Hoffa) fat pad: Magnetic resonance imaging and ultrasound features

The infrapatellar fat pad (IFP) also known as Hoffa fat pad, an intracapsular extrasynovial structure readily visualized on magnetic resonance imaging of the knee,1 can be affected by a variety of pathologic conditions (lipoma, hemangioma, synovial chondromatosis, focal villonodular synovitis, ganglion cyst, osteochondroma, and chondrosarcoma).2 Because synovial hemangioma is an extremely rare disease and often shows nonspecific symptoms (pain, swelling, limping, or limitation of motion), diagnosis could be delayed in many cases.3 Ultrasound is acknowledged to be of considerable value in assessing superficial masses around the knee joint

Paleoparasitological study of Holocene South American camelids (ca. 8970–470 years 14C BP) from an archaeological site, Southern Puna of Argentina (Antofagasta de la Sierra, Catamarca)

South American camelids (SAC) have occupied a central role in the development of Andean societies. They are widely distributed in South America and since ancient times are an important factor in Andean economies and social and ritual life. The archaeological site Punta de Peña 4 (PP4) is located in Antofagasta de la Sierra Basin (Southern Puna of Argentina). PP4 is a rock overhang and presents a large occupational sequence (early Holocene until historic times). The aim of this contribution is to study parasite diversity and the relationship among parasites and SAC through holocenic times in the Southern Puna of Argentina. Besides, differences in parasite egg preservation in the site were discussed. A total of 65 coprolites assigned to SAC were rehydratated, homogenized, filtered, allowed to spontaneous sedimentation and examined for parasite remains. Given the morphology of the coprolites, the biogeographic origin and the presence of coccidian oocysts of Eimeria macusaniensis in some of them, a camelid origin of the coprolites is suggested. This is the first paleoparasitological study from PP4, an archaeological site of Antofagasta de la Sierra, a key region in northwestern Argentina and Central Andes. Eleven taxa of parasites were found belonging to Apicomplexa, Platyhelminthes, and Nematoda. Specific parasite species of SAC were found, such as E. macusaniensis and Lamanema chavezi/Nematodirus lamae. A remarkable finding was the presence of Moniezia sp. and Strongyloides sp. in coprolites from different levels of PP4, pointing out the presence of these genera in native artiodactyls of the region previous to the arrival of Hispanic societies. Results displayed a change in the number of parasite taxa present in SAC through time. The parasite-SAC relation through time and differences in parasite egg preservation between levels and sectors (covered and uncovered) of the site are discussed.Fil: Tietze, Eleonor. Universidad Nacional de Mar del Plata. Instituto de Investigaciones En Produccion, Sanidad y Ambiente. - Consejo Nacional de Investigaciones Cientificas y Tecnicas. Centro Cientifico Tecnologico Conicet - Mar del Plata. Instituto de Investigaciones En Produccion, Sanidad y Ambiente.; ArgentinaFil: Urquiza, Silvana Valeria. Universidad Nacional de Tucuman. Facultad de Cs.naturales E Instituto Miguel Lillo. Instituto de Arqueología y Museo. Laboratorio de Investigaciones del Grupo Interdisciplinario de Arqueología y Antropología Tucuman; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Beltrame, Maria Ornela. Universidad Nacional de Mar del Plata. Instituto de Investigaciones En Produccion, Sanidad y Ambiente. - Consejo Nacional de Investigaciones Cientificas y Tecnicas. Centro Cientifico Tecnologico Conicet - Mar del Plata. Instituto de Investigaciones En Produccion, Sanidad y Ambiente.; Argentin