Rheumatoid arthritis, Klippel-Feil syndrome and Pott's disease in Cardinal Carlo de' Medici (1595-1666).

OBJECTIVE: A paleopathological study was carried out on the she skeletal remains of Cardinal Carlo de' Medici (1595-1666), son of the Grand Duke Ferdinando I (1549-1609) and Cristina from Lorraine (1565-1636), to investigate the articular pathology described in the archival sources. METHODS: The skeletal remains of Carlo, buried in the Basilica of San Lorenzo in Florence, have been exhumed and submitted to macroscopic and radiological examination. RESULTS: The skeleton of Carlo revealed a concentration of different severe pathologies. Ankylosis of the cervical column, associated with other facial and spine anomalies suggests a diagnosis of congenital disease: the Klippel-Feil syndrome. In addition, the cervical segment presents the results of the tuberculosis (Pott's disease) from which the Cardinal suffered in his infancy. The post-cranial skeleton shows an ankylosing disease, mainly symmetrical and extremely severe, involving the large as well as small articulations, and characterized by massive joint fusion, that totally disabled the Cardinal in his last years of life. CONCLUSIONS: The final diagnosis suggests an advanced, ankylosing stage of rheumatoid arthritis.

3-D segmentation algorithm of small lung nodules in spiral CT images.

Computed tomography (CT) is the most sensitive imaging technique for detecting lung nodules, and is now being evaluated as a screening tool for lung cancer in several large samples studies all over the world. In this report, we describe a semiautomatic method for 3-D segmentation of lung nodules in CT images for subsequent volume assessment. The distinguishing features of our algorithm are the following. 1) The user interaction process. It allows the introduction of the knowledge of the expert in a simple and reproducible manner. 2) The adoption of the geodesic distance in a multithreshold image representation. It allows the definition of a fusion--segregation process based on both gray-level similarity and objects shape. The algorithm was validated on low-dose CT scans of small nodule phantoms (mean diameter 5.3--11 mm) and in vivo lung nodules (mean diameter 5--9.8 mm) detected in the Italung-CT screening program for lung cancer. A further test on small lung nodules of Lung Image Database Consortium (LIDC) first data set was also performed. We observed a RMS error less than 6.6% in phantoms, and the correct outlining of the nodule contour was obtained in 82/95 lung nodules of Italung-CT and in 10/12 lung nodules of LIDC first data set. The achieved results support the use of the proposed algorithm for volume measurements of lung nodules examined with low-dose CT scanning technique.

Whole-brain histogram and voxel-based analyses of apparent diffusion coefficient and magnetization transfer ratio in celiac disease, epilepsy, and cerebral calcifications syndrome.

BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy. MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyzed with histograms and the Statistical Parametric Mapping 2 (SPM2) software. We employed the non-parametric Mann-Whitney U test to assess differences for ADC and MTR histogram metrics. Voxel by voxel comparison of the ADC and MTR maps was performed with 2 tails t-test corrected for multiple comparison. RESULTS: A significantly higher whole brain ADC value as compared to healthy controls was observed in CEC (P = 0.006) and CD (P = 0.01) patients. SPM2 showed bilateral areas of significantly decreased MTR in the parietal and temporal subcortical white matter (WM) in the CEC patients. CONCLUSION: Our study indicates that diffusion and MT techniques are also capable of revealing abnormalities undetected by MR imaging. In particular patients with CEC syndrome show an increase of the whole brain ADC histogram which is more pronounced than in patients with gluten intolerance. IN CEC patients, voxel-based analysis demonstrates a localized decrease of the MTR in the parieto-temporal subcortical WM.

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.

MRI of the brain and proton MRS ((1)H MRS) of the pons and dentate were obtained in 10 patients with genetically confirmed Unverricht-Lundborg disease (EPM1) and 20 control subjects. Patients with EPM1 showed (p < or = 0.01) loss of bulk of the basis pontis, medulla, and cerebellar hemispheres. Cerebral atrophy was present in six patients. The N-acetylaspartate/creatine and choline/creatine ratios were reduced in the pons but not in the dentate (p < or = 0.005). Brainstem involvement could play a role in pathophysiology of EPM1.

Hypertension, hyperekplexia, and pyramidal paresis due to vascular compression of the medulla.

MRI showed impingement of the vertebral artery on the left lateral medulla in two patients with arterial hypertension, exaggerated startle reflexes (hyperekplexia), and progressive spastic paresis. One patient underwent microvascular decompression with normalization of arterial hypertension, disappearance of hyperekplexia, and improvement of spastic paresis. The combination of arterial hypertension, hyperekplexia, and progressive spastic paresis should arouse suspicion of neurovascular compression of the lateral medulla.

Transthyretin amyloidosis and superficial siderosis of the CNS.

OBJECTIVE: To describe a previously unreported clinical and radiologic presentation of hereditary transthyretin (TTR)-related amyloidosis. BACKGROUND: Unexplained cerebellar ataxia, pyramidal syndrome, and hearing loss are observed in some patients with TTR-related amyloidoses. METHODS: We performed clinical, radiologic, and pathologic examinations of three family members with TTR-related (Ala36Pro) amyloidosis. RESULTS: The patient was a 69-year-old woman with vitreal amyloid deposits, progressive sensorineural deafness, cerebellar ataxia, pyramidal syndrome, and recurrent transient neurologic symptoms. Cranial MRI showed symmetric thin rims of low signal intensity in T2- and T2*-weighted images in the cortex of the sylvian fissures, of the cerebellar hemispheres and vermis, and in the quadrigeminal plate consistent with superficial siderosis of the CNS. Her older daughter had vitreal amyloid deposits, acute Brown-Sequard syndrome at C4, acute sensorineural deafness, and recurrent transient neurologic symptoms. Cranial MRI at age 48 revealed a rim of low signal intensity in T2- and T2*-weighted images in the superior vermis folia and the right sylvian cortex. In addition, two small hemosiderin deposits were seen in the left parietal cortex. Lumbar puncture yielded colorless CSF with increased ferritin content and was followed by fourth ventricle hemorrhage. Cranial MRI 11 months later showed progression of brain hemosiderin deposits. The younger daughter had vitreal deposits, sensorimotor polyneuropathy, and acute sensorineural hearing but no evidence of siderosis on cranial MRI. She died at age 43 years of posterior fossa subarachnoid hemorrhage, and the neuropathologic examination showed amyloid deposition in the leptomeningeal spaces and vessels. CONCLUSION: Transthyretin-related amyloidosis may cause superficial siderosis of the CNS through subarachnoid bleeding related to meningovascular amyloid deposition.

Computed tomography in nasopharyngeal carcinoma: Part I: T-stage conversion with CT-staging.

Two hundred seventeen consecutive patients were treated with radiotherapy alone, with curative intent, from 1970 to 1985 at the Radiotherapy Unit of the University and Hospital of Florence. The distribution according to T and N staging with polytomography was compared to patients (106 out of 217) who had CT scans done at presentation. T1 cases were less frequent (6.6% vs 27%) in the CT-staged series, whereas T3 showed a higher incidence (30.2% vs 12.6%). The advantages of CT over conventional tomography were quantitated in a subset of 97 patients who underwent both staging procedures. Site-by-site, CT displayed a higher percentage of involvement than polytomography: parapharyngeal spread 18% vs 2%, oropharynx 16% vs 8%, choanae and nasal cavities 28% vs 13%, ethmoid and maxillary sinus 29% vs 13%. Information provided by CT caused a T-stage conversion in 23 out of 97 cases (23%): 4 out of 11 T1, 16 out of 44 T2, 3 out of 16 T3.

Computed tomography in nasopharyngeal carcinoma: Part II: Impact on survival.

Two hundred and seventeen consecutive patients affected by nasopharyngeal carcinoma (NPC) were treated with radiotherapy alone, with curative intent, from 1970 to 1985 at the Radiotherapy Unit of the University and Hospital of Florence. A group (A) of 111 patients staged with conventional clinical and radiological method was compared to a second group (B) of 106 patients who underwent CT staging before treatment. Group B showed better 5-year NED survival and local control; only the differences in local control were significant (p less than 0.01). As to primary control statistically significant differences were observed in T2 and T4 cases. We feel that CT could have contributed to the improvement, probably through a more reliable display of the primary extent and a more adequately planned radiotherapeutic treatment. With CT staging we could not increase our skills in prognostically separating stages according to UICC criteria (1978); in Group B only T2 patients presented significant differences in primary control when compared to T3 and T4 patients. However, a multivariate analysis of prognostic factors showed that nodal involvement, primarily, and histology, secondarily, were the most important factors; T stage showed a minor influence on prognosis.

Magnetic resonance imaging and high-resolution computed tomography in tumors of the lung and the mediastinum.

Magnetic resonance (MR) imaging and high resolution computed tomography (CT) have been compared in 37 patients who had expansive processes of the lung and the mediastinum. MR imaging and CT scanning gave identical results in 32 patients; in 5 patients, CT scanning has proved more useful in evaluating the stag e of primary lung tumors. MR imaging often gives more information about the actual size of the tumor, and the involvement of close structures, although it does not modify staging of the tumor. MR imaging has the advantage to differentiate hilar adenopathy from blood vessel structures. Evaluation of T2 relaxing time (that we have performed in the same location of thin-needle biopsy aspiration), however, did not prove to be of diagnostic significance; this indicates that MR imaging at the moment is not suitable for tissue typification.

Neurological damage in patients irradiated twice on the spinal cord: a morphologic and electrophysiological study.

We reviewed the files of 950 patients treated for Hodgkin's disease since 1966 and were able to find five patients treated with radiochemotherapy and irradiated twice on volumes including a cord segment, at various time intervals, and surviving until now. Seven patients with comparable clinical and therapeutic features, but not reirradiated on the cord, were chosen as a control group and were examined with the same diagnostic procedures. The cumulative cord dose in the reirradiated patients was recalculated and ranged from 50 to 70 Gy. All these patients and the control cases were followed up for more than 10 years and presented no or only minor neurological symptoms. We compare the results of both magnetic resonance imaging (MRI) and electrophysiological studies (spinal and scalp recorded somatosensory evoked potentials--SEPs) in an attempt to define the characteristics of the subclinical damage present in these patients. While no cord abnormality was demonstrated with MRI, electrophysiological studies evidenced a clear difference between cases and controls, as far as the D10-P1 conduction time and SEPs average amplitude are concerned. Advantages and drawbacks of a wider use of electrophysiological methods in research work on cord radiation damage are presented, along with the possible implications of the results obtained for the understanding of the pathogenesis and of the dose dependence of radiation myelitis (RM).

Expanding lacunae causing triventricular hydrocephalus. Report of two cases.

Two patients are reported in whom the presence of triventricular hydrocephalus and aqueductal obstruction or stenosis due to multiple expanding lacunae in the mesencephalothalamic region possibly corresponds to abnormally dilated perivascular spaces. Placement of a ventriculoperitoneal cerebrospinal fluid (CSF) shunt in one patient and the performance of a third ventricle cisternotomy in the other reversed the hydrocephalic syndrome, but did not modify the complex neuroophthalmological disturbance and rubral tremor presumably related to the compressive effects of the lacunae on adjacent parenchyma. In one patient the number and size of the lacunae were increased 4 years after CSF shunt placement. A review of the literature revealed two cases in which magnetic resonance imaging demonstrated a similar, poorly understood pathological condition.

CT evaluation of chest wall recurrences of breast cancer.

CT findings regarding chest wall recurrences in 19 breast cancers previously treated with radical mastectomy are reported. CT provides detailed information on the endothoracic extension of the tumoral spread.

Computed tomography role in massive thoracic extramedullary haematopoiesis.

A mediastinal mass consisting of haematopoietic tissue and situated in the paravertebral area has been demonstrated in an osteomyelosclerotic patient with diffuse extramedullary haematopoiesis. The internal structure of the mediastinal mass was shown by CT, so a correct diagnosis was made without any invasive procedure.

Mediastinal involvement in Hodgkin's disease: prognostic factors and distribution of intrathoracic adenopathies.

The files and the roentgenographic documentation of 624 patients affected by Hodgkin's disease have been reviewed. The presence and location of involved nodes in the different lymph node chains of the mediastinum have been determined and correlated with the distribution of the main anatomoclinic prognostic parameters of the disease. Feminine sex, histology of nodular sclerosis, presence of constitutional symptoms and age younger than 36 were found to be significantly more frequent in patients with mediastinal adenopathies than in patients with a normal mediastinum. Patients with mediastinal adenopathy at presentation were also more likely develop pulmonary involvement as first evidence of new manifestation of disease after the primary treatment. A different probability to be affected by disease was evident among the different lymph node groups in the mediastinum. The involvement of hilar nodes appeared to accompany a more advanced stage of disease and to favour the adjacent lung extension.

Magnetic resonance imaging in the measurement of clinical stage IB cervical carcinoma.

MRI can accurately define the extension of cervical carcinoma to the parametria. However, in patients with cervical carcinoma clinical stage IB, the definition of the dimensions of the tumour, prior to surgery, and may also modify the treatment procedure. Recently pre-operative neoadjuvant chemotherapy has been proposed for patients with bulky tumours. Multiple factors may influence the prognosis of clinical stage IB and survival varies greatly among these patients. In particular the maximum dimensions of the tumour seem to have a prognostic relevance. The aim of this paper is to evaluate the potential of MRI to measure tumour size, in order to discriminate between patients needing surgery alone or pre-operative therapy followed by surgery. In 20 patients with clinical stage IB cervical carcinoma we performed MRI to measure the radius of the cervix, the radius of the tumour and their ratios. The measurements obtained have been compared with the corresponding data from histopathology of the operative specimens. The close correspondence between these linear measurements allows us to propose MRI as a reliable method to define tumour size in clinical stage IB patients before surgery.

The diagnostic efficacy of mammography and palpation in early detection of breast cancer.

The diagnostic efficacy of mammography and physical examination, separately and considered together, are evaluated in 912 cases of breast cancer detected at the Center for Social Diseases of the Florence District, where there is a mass-screening program (110 cases) and a diagnostic service for self-referred women (810 cases). The overall sensitivity of the 2 methods increases with age; the trends of diagnostic efficacies of mammography and palpation according to age are similar, except in the 40-44 year age group, in which physical examination has a lower percentage of false-negative cases. In the screening group, there is a greater proportion of nonpalpable cancers and mammography has a larger diagnostic efficacy except in the 40-44 year age group. These results agree with the better sensitivity of mammography in smaller lesion (TI) and with the larger proportion of noninterpretable mammographies in younger women, because of the density of mammalian glands.

Magnetic resonance (MR) evaluation of bone marrow in vertebral bodies.

Magnetic Resonance (MR) imaging was used to examine the hematopoietic bone marrow in the vertebral bodies of eight healthy subjects, and of 35 cancer patients who had been previously treated with radiation therapy. MR was instrumental in distinguishing viable hematopoietic tissue (red marrow) from adipose tissue (yellow marrow), whose presence reflected the extent of radiation-induced bone marrow injury. Different water content in proliferating hematopoietic tissue and adipose tissue enabled clear distinction of the two components even inside the same vertebral body. Three patterns of bone marrow viability were observed in irradiated patients: 1. Patients undergoing therapy at the time of MR study, and patients who had received low-intermediate dose several years before MR examination showed no alteration as compared with healthy controls (i.e. homogeneous presence of red marrow). 2. Patients who had received low-intermediate dose few years before MR, showed either partial re-colonization of yellow marrow or almost complete ablation of active red marrow with rare areas of re-colonization. 3. Patients who had received high dose, showed complete depletion of red marrow (fatty substitution) independently of the length of time elapsed since radiation therapy. Therefore, bone marrow recovery after radiation therapy was associate with two variables: received dose and length of time allowed for re-colonization by surviving hematopoietic tissue. In conclusion, our results provide evidence that MR can be purposively used to study composition and distribution of normal bone marrow, and to asses the extent of radiation-induced bone marrow injury; to monitor bone marrow recovery (or the lack of it); and in the general follow-up of treated cancer patients.

Anesthetic management for percutaneous aortic valve implantation: an overview of worldwide experiences.

Transcatheter aortic valve implantation is an emergent technique for high risk patients with aortic stenosis. Transcatheter aortic valve implantation poses significant challenges about its management, due to the procedure itself (i.e. the passage of large stiff sheaths in diseased vessels, the valve dilatation and the prosthesis positioning during a partial cardiac standstill) and the population of elder and high-risk patients who undergo the implantation. Retrograde transfemoral approach is the most popular procedure and a great number of cases is reported. Nevertheless, there is not a consensus regarding the intraoperative anesthesiological strategies, which vary in the different Centers. Sedation plus local anesthesia or general anesthesia are both valid alternatives and can be applied according to patient's characteristics and procedural instances. Most groups started the implantation program with a general anesthesia; indeed, it offers many advantages, mainly regarding the possibility of an early diagnosis and treatment of potential complications, through the use of the transesophageal echocardiography. However, after the initial experiences, many groups began to employ routinely sedation plus local anesthesia for transcatheter aortic valve implantation and their procedural and periprocedural success demonstrates that it is feasible, with many possible advantages. Many aspects about perioperative anesthetic management for transcatheter aortic valve implantation are still to be defined. Aim of this work is to clarify the different management strategies through a review of the available literature published in pubmed till June 2011.