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The aim of the present study was to evaluate the role of non-invasive methods in the early detection of pulmonary and cardiac involvement in Systemic sclerosis (SSc) and to identify clinical and/or instrumental patterns of prognostic value.Twenty female patients affected by SSc (8 with diffuse cutaneous SSc and 12 with limited cutaneous SSc) were enrolled in our study. Cardiac and pulmonary involvement (respiratory function tests and carbon monoxide lung diffusion [DLCO], chest radiography, high resolution computed tomography [HRCT] and lung perfusion magnetic resonance) were evaluated.All 18 patients studied with respiratory function tests showed a significant reduction of DLCO. HRCT was considerably more sensitive than traditional chest radiography (59% versus 28%; p0.05). Lung perfusion MRI revealed normal findings in 15 patients. Abnormal lung perfusion MRI results were found only in 3 patients. Angina pectoris with electrocardiographic and scintigraphic ischemic changes, severe regional wall motion abnormalities and complex arrhythmias seemed to be associated with poor prognosis.Taken together these results indicate that a pulmonary involvement occurs both in limited and in diffuse cutaneous SSc patients and develops, in 83% of the cases, without any regional lung perfusion abnormality. Furthermore, cardiac involvement is detected in 65% of the cases as a consequence of a range of noxious events including myocardial ischemia, fibrosis and pressure overload which may result in ventricular dysfunction and arrhythmias. Lung perfusion MRI should be considered as a complementary diagnostic method for the functional evaluation of these symptoms in systemic sclerosis.

The aim of our study was to evaluate the incoming interrelations between chronic low back pain and biomechanical changes of the lumbar spine, using an MRI-compatible axial-loading device mimicking the standing position.Fifty consecutive patients (28 males and 22 females), with both chronic low pack pain and recurrent painful blockages, were selected and studied using a 1.5 T Gyroscan Intera Philips MRI unit (Philips, Best, Holland) and a dedicated axial loading apparatus (MIKAI manufacturing, Genoa, Italy).After loading, no significant modifications occurred in ten patients (20%), a spinal stenosis was seen in 18 patients (45%), an increase in the discal protrusions or hernias was detected in 8 patients (20%) and a significant accentuation of the spondylolisthesis was observed in 6 patients (15%).Axial loading MRI provides valuable information for specific non-invasive or operative management of low back pain.

We support the normal standards for two sonographic (US) signs of the posterior cranial fossa, namely the magnitude of the cisterna magna and the height of the fourth ventricle fastigium, in preterm and fullterm infants.The cisterna magna was measured as the distance between the inferior aspect of the cerebella vermis and the inner aspect of the occiput. The height of the fourth ventricle fastigium was calculated as the line drawn from the fastigium to the inner aspect of the occiput, close to the opisthion.The cisterna magna was .46 +/- .13 cm in preterm infants and .45 +/- .1 cm in fullterm infants (the difference was not significant), whereas the height of the fourth ventricle fastigium was 1.7 +/- .26 cm in preterm and 1.9 +/- .16 cm in fullterm infants (the difference was significant, p.005).The finding of a cisterna magna of equal size in preterm and fullterm infants is in agreement with the concept that subarachnoid and cisternal spaces of the posterior fossa are still large at birth and start to decrease in size later in life. Our results suggest that a cisterna magna smaller than .2 cm in height and/or a fastigium closer than 1.2 cm to the basiocciput in preterm and closer than 1.6 cm in fullterm infants indicate, in a proper clinical context, an abnormally low cerebellum position (Arnold-Chiari malformation). On the other hand, cisterna magna values exceeding .72 in preterm and .65 cm in fullterm infants, as well as fastigium values exceeding 2.22 cm in both groups may suggest the presence of the Dandy-Walker complex or of an arachnoid cyst.

Atherosclerosis is a disease with a chronic-progressive course. We report on the statistic prevalence of vascular lesions in 1,500 asymptomatic patients with vascular diseases examined with Computed Tomography (CT) for different reasons. The aortoiliac arterial district was involved in 934/1,500 patients (62.3%), with simple or calcified plaques, thrombosis or dilatations. We investigated the involvement of other arterial vessels (47%) whenever feasible (57.7% of cases). The aorta was thrombosed in 107 patients (2.8%) and the thrombus associated with a calcification and a dilated vessel in 45 of them (42.1%). The aorta or the iliac arteries were enlarged in 62 patients (4.1%) and arterial diameter exceeded 4 cm in 20 patients (1.3%). Finally, the statistical significance was analyzed considering risk factors-i.e., smoking, arterial hypertension, diabetes and hypolipoproteinemia. All the patients with 2 or more risk factors had positive CT findings; the prevalence was 75% in cigarette smokers, 83% in hypertensive, 81.3% in dislipidemic and 93.5% in diabetic patients. These data demonstrate that, in agreement with international literature reports, it is possible to single out the groups of patients that, because of their age, risk factors and sex, should be considered for color Doppler screening programs and the selected cases to be submitted to CT.

Subcoracoid impingement syndrome pain is elicited by some positions of the upper limbs, i.e., adduction and inward rotation, whenever coracohumeral space reduces. Although acquired or congenital malformations of the humeral head and/or coracoid apophysis are the most common causes of painful syndromes, repeated flections and inward rotations of the upper limbs, typical of some sports, such as swimming and tennis, and of some sports, such as swimming and tennis, and of some kinds of work, are predisposing factors. The subcoracoid impingement syndrome exhibits on pathogenomonic signs at clinics and the specificity of diagnostic methods is low, which calls for reliable radiologic assessment of this condition. Fifteen patients with subcoracoid impingement syndrome underwent X-ray, US, CT and MR studies. Plain radiography detected no specific signs of this syndrome, but yielded useful information regarding other painful syndromes of the shoulder, such as anatomical variants of the acromion and degenerative changes. US yield was poor because of the acoustic window of the coracoid apophysis, but supraspinatus tendon changes were demonstrated in 2 cases. CT and MRI proved to be the most reliable and accurate diagnostic methods, the former thanks to its sensitivity to even slight bone changes and to its capabilities in measuring coracohumeral distance and acquiring dynamic scans and the latter because it detects tendon, bursa and rotator cuff changes. To conclude, in our opinion, when the subcoracoid impingement syndrome is clinically suspected, plain X-ray films should be performed first and followed by MR scans.

Technetium-99m tetrofosmin (TF) is a myocardial perfusion agent that has recently proved useful also as tumor-seeking tracer. The aim of this study was to make a preliminary assessment of TF scintigraphy in osteosarcoma, with regard to tumor detection and monitoring of response to preoperative chemotherapy (PC). Current clinical investigations have demonstrated that the curability of osteogenic sarcoma mainly depends on the response to PC, and the percentage of tumor necrosis is the most powerful prognostic factor. However, this is difficult to assess radiologically, and it can only been obtained by histologic examination after surgery. Fourteen patients (7 males, age range: 1-17 years) with recently discovered osteosarcoma of the extremities or the pelvis were injected with TF ( approximately 7.4 MBq/kg i.v., never in the affected limb): a dynamic acquisition (20 min) was performed immediately post-injection, followed by static planar views of the involved area. Six patients were studied twice: before and after PC. Images were evaluated visually and quantitatively using regions of interest over lesion (L) and controlateral normal tissue (N). All initial TF scans demonstrated very rapid tumoral uptake (1-2 min post-injection); the mean L/N ratio at 20 min was 2.76+/-1.05. The post-PC scans showed reduced uptake in 4 patients, unchanged in one and increased accumulation in one case, with a strong correlation between the percentage change in L/N and the percentage of tumor necrosis. Our preliminary data indicate that TF is able to detect osteosarcoma; further studies including larger population is need to confirm its usefulness in non-invasively predicting response to PC.

The purpose of this study was to assess the effectiveness and safety of Percutaneous Kyphoplasty as a new method of treatment for pain deriving from vertebral compression fractures (VCF).We treated sixteen patients with unremitting pain over spine, which increased particularly when pressure was applied over the spinous process, in absence of neurological signs and refractory to conventional medical therapy.The method demonstrated swift pain relief associated with an evident augmentation in the resistance and restoration of the vertebral body's physiological shape. Polymethylmethacrylate (PMMA) leakages were not observed in the epidural space or foraminal area. The presence of complications such as pulmonary embolism involving the venous plexus, toxicity due to PMMA and infection due the procedure did not occur.Kyphoplasty is an effective, alternative, simple and safe treatment of vertebral collapse consequent to osteoporosis. aggressive haemangiomas, myelomas and metastases.

Vertebroplasty is a minimally invasive procedure demonstrated to be safe and effective in the treatment of painful osteoporotic and malignancy related fractures when performed in the thoracolumbar spine. Multiple randomized and nonrandomized reports have demonstrated its effectiveness. Conversely, transoral vertebroplasty (TOV) to treat the second cervical vertebra (C2) has been described in only a few case reports.Prospective evaluation of clinical results of TOV performed in malignant painful osteolytic lesions of C2.TOV was performed in 25 consecutive patients suffering from high-grade cervical pain due to malignant involvement of C2 who failed conservative therapies and did not have surgical indications. Follow-up was prospectively evaluated with clinical interviews in all patients. The Internal Review Board approved this study.Institute for Cancer Research and TreatmentTwenty-five patients (16 women and 9 men; mean age 59.3 ± 11.5) suffering from a painful malignant involvement of C2 who did not respond to conventional therapies and did not have surgical indications, underwent TOV for pain palliation. The procedure was performed under general anesthesia with combined digital fluoroscopy and computed tomography guidance. After a beveled vertebroplasty needle was manually advanced up to the posterior odontoid wall, bone cement was injected under continuous digital fluoroscopic control. Patients were discharged from the hospital the next procedural day. The Visual Analog Scale (VAS) for pain, analgesic requirement, and use of external cervical cast support were used for evaluating efficacy. The main end point was safety and efficacy at day 15 after the procedure. Furthermore, all the patients were scheduled to be followed-up at months one, 3, and 6, and every 6 months thereafter.The median pretreatment VAS of 8 (range 5-10) significantly dropped (P0.0001) to 0 (range 0-10), with 20 patients (80%) achieving complete pain relief at day 15 after TOV. Differences in pre- and post-treatment analgesic therapy were significant (P0.001). Twenty-three patients no longer used a cervical cast after TOV (92%, P0.001). At median overall follow-up of 16 months (range 6-60 months), the projected proportion of patients free from worsening pain at 6, 12, and 24 months was 96%, 96% and 92% respectively.A randomized study of only 25 patients.TOV is safe, effective, and long-lasting in the treatment of cervical pain resulting from malignant involvement of C2.

Context: Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial and skeletal features, lipodystrophy, and metabolic complications. Most Italian patients carry the same homozygous missense mutation (p.R527H) in the C-terminal tail domain of the LMNA gene, which encodes lamin A/C, an intermediate filament component of the nuclear envelope.Objective: The objective of the study was to identify novel LMNA mutations in individuals with clinical characteristics (bird-like facies, mandibular and clavicular hypoplasia, acroosteolysis, lipodystrophy, alopecia) observed in other well-known patients.Design: The LMNA gene was sequenced. Functional properties of the mutant alleles were investigated.Patient: We report a 27-yr-old Italian woman showing a MADA-like phenotype. Features include a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of sc fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, this phenotype can be considered an atypical laminopathy.Results: We identified a patient compound heterozygote for the p.R527H and p.V440M alleles. The patient’s cells showed nuclear shape abnormalities, accumulation of pre-lamin A, and irregular lamina thickness. Lamins A and C showed normal expression and localization. The electron microscopy detected heterochromatin defects with a pattern similar to those observed in other laminopathies. However, chromatin analysis showed a normal distribution pattern of the major heterochromatin proteins: heterochromatin protein-1β and histone H3 methylated at lysine 9.Conclusions: The clinical and cellular features of this patient show overlapping laminopathy phenotypes that could be due to the combination of p.R527H and p.V440M alleles.

We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.