Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

Spinocerebellar ataxias are dominantly inherited disorders that are associated with progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of the multicentre European integrated project on spinocerebellar ataxias study, 37 patients with spinocerebellar ataxia-1, 19 with spinocerebellar ataxia-3 and seven with spinocerebellar ataxia-6 were clinically examined and underwent magnetic resonance imaging at baseline and after a 2-year follow-up. All patients were compared with age-matched and gender-matched healthy control subjects. Magnetic resonance imaging analysis included three-dimensional volumetry and observer-independent longitudinal voxel-based morphometry. Volumetry revealed loss of brainstem, cerebellar and basal ganglia volume in all genotypes. Most sensitive to change was the pontine volume in spinocerebellar ataxia-1, striatal volume in spinocerebellar ataxia-3 and caudate volume in spinocerebellar ataxia-6. Sensitivity to change, as measured by standard response mean, of the respective MRI measures was greater than that of the most sensitive clinical measure, the Scale for the Assessment and Rating of Ataxia. Longitudinal voxel-based morphometry revealed greatest grey matter loss in the cerebellum and brainstem in spinocerebellar ataxia-1, in the putamen and pallidum in spinocerebellar ataxia-3 and in the cerebellum, thalamus, putamen and pallidum in spinocerebellar ataxia-6. There was a mild correlation between CAG repeat length and volume loss of the bilateral cerebellum and the pons in spinocerebellar ataxia-1. Quantitative volumetry and voxel-based morphometry imaging demonstrated genotype-specific patterns of atrophy progression in spinocerebellar ataxias-1, 3 and 6, and they showed a high sensitivity to detect change that was superior to clinical scales. These structural magnetic resonance imaging findings have the potential to serve as surrogate markers, which might help to delineate quantifiable endpoints and non-invasive methods for rapid and reliable data acquisition, encouraging their use in clinical trials.

Contrast-induced nephropathy--a review of current literature and guidelines.

The use of iodine-based contrast agents always entails the risk of contrast-induced nephropathy (CIN). The recently observed dramatic increase in the number of examinations and therapeutic procedures using iodine-based contrast media led us to conduct a thorough analysis of the growing number of scientific reports and collective works devoted to contrast-induced nephropathy, based on current definitions, epidemiology, pathophysiology, risk factors, successful prophylaxis and guidelines of the European Society of Urogenital Radiology (ESUR). Radiological contrast agents are the third most common cause of nephropathy among in-patients, accounting for 11-12% of cases. CIN is connected with some clinically significant consequences, including increased morbidity, prolonged hospitalisation, increased risk of complications, potential need for dialysis and increased mortality rate. A significant increase in the number of examinations applying iodine-based contrast media in the course of inpatient procedures requires close cooperation of the clinician and radiologist, supported by knowledge of all CIN issues. In order to protect patients from contrast-induced nephropathy, it is necessary to monitor their renal function, indentify patients with risk factors, refer patients for examinations in a responsible manner, and undertake successful preventive measures.

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

BACKGROUND AND OBJECTIVE: Biomarkers to monitor neurological dysfunction in autosomal dominant inherited spinocerebellar ataxias (SCA) are lacking. We therefore aimed to visualize, quantify and correlate localized brain atrophy with clinical symptoms in SCA1, SCA3, and SCA6. METHODS: We compared patients suffering from SCA1 (n=48), SCA3 (n=24), and SCA6 (n=10) with 32 controls using magnetic resonance imaging (MRI) on four different scanners in eight centers followed by voxel-based morphometry (VBM) and quantitative three-dimensional (3D) volumetry. RESULTS: SCA1 and SCA3 patients presented with severe atrophy in total brainstem (consisting of midbrain, pons, and medulla), pons, medulla, total cerebellum, cerebellar hemispheres and cerebellar vermis, putamen and caudate nucleus. Atrophy in the cerebellar hemispheres was less severe in SCA3 than in SCA1 and SCA6. Atrophy in SCA6 was restricted to the grey matter of the cerebellum (VBM and volumetry), total brainstem and pons (volumetry only). Overall, we did not observe substantial atrophy in the cerebral cortex. A discriminant analysis taking into account data from pons, cerebellar hemispheres, medulla, midbrain and putamen achieved a reclassification probability of 81.7% for SCA1, SCA3, and SCA6. The repeat length of the expanded allele showed a weak negative correlation with the volume of the brainstem, pons, caudate nucleus and putamen in SCA3, and a weak correlation with the pons in SCA1, whereas no such correlation was found in SCA6. Clinical dysfunction as measured by the Scale for the Assessment and Rating of Ataxia (SARA) and the Unified Huntington's Disease Rating Scale functional assessment correlated best with the atrophy of pons in SCA1, with total brainstem atrophy in SCA3 and atrophy of total cerebellum in SCA6. CONCLUSIONS: Our data provide strong evidence that MRI is an attractive surrogate marker for clinical studies of SCA. In each SCA genotype clinical dysfunction may be caused by different patho-anatomical processes.

[Microwave ablation of liver tumors as a new instrument for minimally invasive liver surgery]. / Mikrofalowa ablacja guzów watroby jako nowe narzedzie w malo inwazyjnej chirurgii watroby.

Incidence of primary and secondary liver tumors is increasing. Hepatic resection remains the treatment of choice for hepatic tumors. For various reasons the vast majority of patients with liver tumors are not suitable for resection. These patients are candidates for several image-guided focal thermal ablative therapies as alternatives to resection. Currently available ablative techniques include cryotherapy, radiofrequency ablation (RFA), microwave ablation (MWA), laser ablation, high-intensity focused ultrasound ablation (HIFU), and ethanol injection. Presently RFA is most widely heat-based technology used for treatment of liver malignancies due to its availability, efficacy and low complication rates. However, RFA can be time-consuming and associated with higher recurrence rates in larger lesions. MWA is a new thermal ablative technique that uses electromagnetic energy to produce coagulation necrosis. MWA has several advantages over RFA such as an improved convection profile, consistently higher intratumoral temperatures, larger ablation volumes, faster ablation times, and the option of using multiple antennae simultaneously. We report our first experience using MWA and a Coviden Valleyab 915 MHz generator for ablation of liver tumor with respect to our previous experience with RFA. Further this study reviews current literature on the RFA and MWA for the treatment of the liver malignances. In our opinion although experience is limited MWA appears to be a safe and effective technology for hepatic tumor ablation and in some cases may be superior alternative to RFA.

[Diagnostic value of multislices computed tomography and magnetic resonance in deeply seated tumors of pharynx, neck and larynx]. / Wartosc diagnostyczna wielorzedowej tomografii komputerowej i rezonansu magnetycznego w diagnostyce gleboko polozonych guzów gardla, szyi i schorzen krtani.

Ultrasound, CT, MR examinations are complementary in preoperative and post-treatment follow up diagnosis in neck region pathology as well as conventional angiography in vascular tumors. The paper presents retrospectively analized CT and MR examinations of 100 patients treated in ORE Department of Military Medical Institute. The limitations and value of CT and MR methods were taken into the consideration. The high value of spiral multislice CT method should be pointed in pathology of larynx due to possibility of precise evaluation of soft tissues with nodular changes and cervical vascular system, expansion into the cartilage structures and functional examination performed during fonation. MR method is more sensitive than CT in localization of neoplastic infiltration among soft tissues structures, so the method is highly essential in estimation of post-surgical cases as well as fusion of nuclear medicine and CT or MR finding or PET.

Sneddon's syndrome as a disorder of small arteries with endothelial cells proliferation: ultrastructural and neuroimaging study.

We report a 18-year-old female patient with livedo reticularis and neurological disturbances. CT scan showed two big ischemic focuses in the pons, moreover MRI revealed small disseminated ischemic focuses in the pons and deep structures of both brain hemispheres. MRA demonstrated no changes in the big extracranial and intracranial arteries. Since the clinical data and neuroimaging results suggested Sneddon's syndrome, the skin and skeletal muscle biopsy was taken to examine. The immunohistochemical and ultrastructural investigations of the skin biopsy revealed a significant reduction of the lumen of the capillaries and small to medium-sized arteries. Cells surrounding the vascular lumen, frequently with multilayer arrangement and their nuclei placed perpendicularly to the lumen, were CD31, CD34, and sporadically SMA positive. At the ultrastructural level, these proliferating cells showed typical features of endothelial cells: abundant intermediate filaments and Weibel-Palade bodies. Between the endothelial cells some junctions were detached as well in the capillaries as in the small arteries. The smooth muscle cells of the small arteries were electron denser than usual and their cytoplasmic protrusions penetrated to the endothelial cells. The ultrastructural picture of some vessels with a considerably narrow lumen was typical of vessels newly formed during angiogenesis. Neuroimaging including TC, MRI, MRA besides histological, immunohistochemical and ultrastructural evaluation may be useful for diagnosis of Sneddon's syndrome.

Neuropathological and anatomopathological analyses of acardiac and "normal" siblings in an acardiac-twin pregnancy.

Acardiac twinning is a very rare complication of multiple pregnancy. The authors present the neuropathological and anatomopathological description of the twins of the multiple pregnancy complicated by the acardiac foetus and terminated at 26 weeks of gestation. An anatomopathological examination of the "normal" twin showed hyaline membrane syndrome, cardiomegaly and hepatomegaly. Neuropathologically, numerous hypoxic-ischaemic lesions, most likely associated with haemodynamic disorders during pregnancy as well as less pronounced perinatal changes were revealed. The acardiac foetus, classified as acardius acephalus, demonstrated the presence of some abdominal organs and a histologically well-developed spinal cord. In view of the neuropathological changes, monitoring "normal" twins for discreet pathological central nervous system signs, which may be similar in character to those described, may play a significant role.

Radiology of upper gastrointestinal tract with ASGB (adjustable silicone gastric banding) for morbid obesity.

BACKGROUND: Metabolic syndrome is a result of multiple risk factors of atherosclerosis and diabetes. Obesity is an especially well recognized etiological factor. A rapidly increasing number of obese people constitutes a major social health problem in the developed, as well as developing countries. Bariatric surgeries are among methods of obesity treatment that gain on popularity. They include adjustable silicone gastric banding (ASGB), and adjustable laparoscopic gastric banding (ALGB). MATERIAL/METHODS: The aim of our study was to analyze and present the most typical radiological images obtained during 130 upper gastrointestinal tract examinations in patients after ASGB or ALGB in the last three years. RESULTS/CONCLUSIONS: ASGB and ALGB are effective and safe. However, they are connected with some postoperative complications. Application of these surgical procedures requires periodic, long-term radiological evaluations and cooperation between surgeons and radiologists. The radiologist must be familiar with bariatric surgical techniques, their complications and typical radiological presentations.

Concomitant heterozygous factor V Leiden mutation and homozygous prothrombin gene variant (G20210A) in patient with cerebral venous thrombosis.

BACKGROUND: Factor V Leiden mutation represents the most common genetic risk factor of venous thrombosis in Caucasian population. A common mutation in prothrombin gene, which is due to G-->A transition at position 20210, is also associated with elevated prothrombin concentration and thrombosis. Both this mutations may constitute concomitant risk factors for deep venous thrombosis. CASE REPORT: A 29-years old woman was admitted in the Emergency Department because of severe headache with vomiting that she suffered for a few days without any neurological deficits. In the Emergency she presented first in her life tonic-clonic seizures followed by right hemiparesis and aphasia and than was admitted to hospital. CT and MR scan showed a large lesion in the left fronto-parietal region with extent edema, which was first diagnosed as tumor. Following MR showed more lesions and typical signs of sinus thrombosis. She improved quickly after stroke without any anticoagulant treatment. Genetic study revealed factor V Leiden mutation and homozygous mutation G20210A in prothrombin gene. CONCLUSIONS: Both mutations found in this case, alone, are not a high risk factors for venous thrombosis but together may increase 5-10 fold risk of venous thrombosis. Venous stroke must be considered always in acute neurological events with organic brain lesions, especially in young