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Biomedical subjects

E Neri

Publications and source records attributed to E Neri.

At least 55 records · Page 3Linked to original sources

Dramatic improvement of LV function after coronary sinus thromboembolectomy.

We present the case of a 79-year-old man suffering from chronic atrial fibrillation, severe left ventricular dysfunction, massive right atrial thrombosis, and pulmonary hypertension. Complete coronary sinus thrombosis was found incidentally during preoperative screening. Successful coronary sinus, right atrial, and pulmonary operative embolectomy was followed soon after by a dramatic improvement of cardiac performance; the patient's left ventricular function recovery, in particular, suggests that cardiac venous system played an important role in the genesis of myocardial impairment.

Aged↗

Usefulness of screening program for celiac disease in autoimmune thyroiditis.

We determined the prevalence of celiac disease in subjects with autoimmune thyroiditis compared with sick and healthy subjects. The screening was performed with IgA-class endomysium antibody, by indirect immunofluorescence using human umbilical cord as the antigenic substrate. Six of the 172 patients with autoimmune thyroiditis were found to be anti-endomysium positive (3.4%) and five of these underwent intestinal biopsy, which showed total villous atrophy. By contrast, 3 (0.75%) of 396 patients with nongastroenterologic malignancies and 10 (0.25%) of 4000 blood donors were found to have celiac disease. The prevalence of autoimmune diseases was significantly higher in patients with both celiac disease and autoimmune thyroiditis than in patients with autoimmune thyroiditis alone (P = 0.01). This study confirms that celiac disease is increased among patients with autoimmune thyroiditis. We suggest that these patients may benefit from screening for celiac disease so as to eliminate symptoms and limit the risk of developing other autoimmune disorders.

Adolescent↗

A novel mutation in the pendrin gene associated with Pendred's syndrome.

OBJECTIVE: Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent causes of congenital deafness, accounting for about 10% of hereditary hearing loss. It is caused by mutations in the pendrin (PDS) gene, a 21 exon gene located on chromosome 7. The aim of this study was to examine an Italian family affected with Pendred's syndrome at the molecular level. PATIENTS: Thirteen subjects belonging to a family from Southern Italy were evaluated for the clinical and genetic features of Pendred's syndrome. MEASUREMENTS: Exons 2-21 of the PDS gene were amplified from peripheral leucocytes by the polymerase chain reaction; mutation analysis was performed by single strand conformation polymorphism, direct sequencing and restriction analysis. RESULTS: The index patient had the classical triad of the syndrome and harboured two mutations in the PDS gene in the form of compound heterozygosity. He was found to be heterozygous for a cytosine to adenosine mutation at nucleotide 1523 in exon 13 and for a IVS 1001 + 1G --> A mutation. The former is a novel mutation which results in a change of 508 threonine to asparagine in the putative eleventh transmembrane domain. The latter mutation in the donor splice site has already been described in other patients and is thought to lead to aberrant splicing and premature protein truncation. Three subjects who were heterozygous for one mutation had normal phenotypes. Two subjects had sensorineural deafness and were heterozygous for a single mutation. Goitre was found only in patients with Pendred's syndrome and was absent in all other individuals, albeit residing in an iodine-deficient area. CONCLUSIONS: We have identified a novel mutation in the pendrin gene causing Pendred's syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis. This is particularly relevant in cases such as in the subjects of our family in which the clinical features might be misleading and other genetics factors might be responsible for deafness.

Adult↗

Gluten-dependent diabetes-related and thyroid-related autoantibodies in patients with celiac disease.

Patients with celiac disease are at high risk of having autoimmune disorders. Moreover, untreated patients with celiac disease have been found to have a higher than expected prevalence of organ-specific autoantibodies. In a prospective study of 90 patients with celiac disease, we found that the prevalence of diabetes and thyroid-related serum antibodies was 11.1% and 14.4%, respectively. Like antiendomysium autoantibodies, these organ-specific antibodies seem to be gluten-dependent and tend to disappear during a gluten-free diet.

Case-Control Studies↗

Localized dissection and delayed rupture of the abdominal aorta after extracorporeal shock wave lithotripsy.

Extracorporeal shock wave lithotripsy (ESWL) represents the preferred treatment for most upper ureteric and renal calculi. Complication rates associated with ESWL are low, justifying the enthusiasm and acceptance of this treatment modality. As the technique has become more widely available, some deleterious effects on the kidneys and the surrounding tissues are increasingly recognized. We report on the rupture of a severely calcified abdominal aorta in a 65-year-old man who underwent 3 months of ESWL treatment earlier for renal calculi. The patient was seen with an acute recrudescence of a long-standing abdominal and left flank pain, which began immediately after the last of the three sessions of ESWL and was associated with an episode of hypotension that occurred an hour before admission. Patient history and chronologic course of events strongly suggest the role of ESWL in the genesis of abdominal aorta rupture.

Aged↗

MR virtual endoscopy of the upper urinary tract.

OBJECTIVE: We investigated the feasibility of applying surface-rendered virtual endoscopy to the visualization of the upper urinary tract by processing unenhanced MR urography data sets. SUBJECTS AND METHODS: Twenty-six patients, having neoplastic lesions (n = 9), calculi (n = 8), pelviureteric junction stenoses (n = 4), postoperative fibrotic strictures (n = 3), and extrinsic compressions of the ureter (n = 2), underwent unenhanced MR urography. Virtual endoscopy of the upper urinary tract was obtained using a thresholding technique and surface-rendering MR urography data sets. RESULTS: Virtual endoscopy of the renal pelvis and calices was feasible in all cases on the side of the urinary obstruction. Virtual endoscopy of the ureter was obtained for a diameter of at least larger than 5 mm. The nondilated side could be partially explored in 11 cases (43%). The mean virtual endoscopy threshold required for the visualization of the urinary tract was 157.36-159.94. The mean time for virtual endoscopy was 13.8 min. Endoluminal masses were found in three (12%) of 26 cases on the renal pelvis (corresponding to neoplastic lesions), and occlusions, in 23 (88%) of 26 on the pelviureteric junction and ureter (neoplastic lesions and other abnormalities). CONCLUSION: Virtual endoscopy of MR urography data sets is feasible in patients with urinary tract dilatation. Virtual endoscopy displays the renal pelvis, calices, and ureter and, moreover, can show endoluminal changes caused by abnormalities.

Diagnostic Techniques, Urological↗

Virtual endoscopy of the middle and inner ear with spiral computed tomography.

OBJECTIVE: To evaluate the inner anatomy of the auditory apparatus by means of virtual endoscopy of spiral computed tomography (CT) data sets. BACKGROUND: Virtual endoscopy permits simulation of the fiberoptic endoscopy perspective by processing CT or magnetic resonance images. METHODS: Seven formalin-fixed specimens of human mastoid were scanned with spiral CT with the following protocol: beam collimation 1 mm, pitch ratio 1, reconstruction spacing 0.2 to 0.5 mm, field of view 90 mm. For the generation of endoscopic views of the auditory spaces, the axial images were processed with Navigator software 2.0 running on UltraSparc I workstation. RESULTS: Virtual endoscopy allowed the demonstration of the external auditory canal, the head and handle of the malleus, the stapes and incudostapedial articulation, the corpus, the long process of the incus with its lenticular process and the short limb, the malleoincudal articulation, the rounded promontory, the round and oval windows, and Prussak's space. From inside the basal turn of the cochlea, virtual endoscopy showed the orifices of the fenestrae cochlea and vestibuli, the origin of the lateral and the anterior semicircular canals, and the basal turn of cochlea. The optimal perspectives that allowed demonstration of the anatomical details of the middle and inner ear are described. CONCLUSION: Virtual endoscopy allows the generation of inner views of the auditory spaces. This new method of image processing can be proposed as an integrative tool of spiral CT imaging.

Culture Techniques↗

Iatrogenic right ventricular laceration: delayed presentation after abdominal surgery.

A 69-year-old man presented at our emergency department in marginal hemodynamic condition due to hemorrhagic shock and cardiac tamponade. Two months earlier, he had undergone total gastrectomy and left lobe hepatectomy for invasive gastric cancer. Delayed iatrogenic laceration of the right ventricle, consequent to the abdominal procedure, was the uncommon cause of the massive hemopericardium. To our knowledge, this is only the 2nd case in the literature of a cardiac laceration after abdominal surgery.

Aged↗

Detection of accessory renal arteries with virtual vascular endoscopy of the aorta.

PURPOSE: To evaluate the diagnostic accuracy of virtual vascular endoscopy (VVE) in the detection of accessory renal arteries. METHODS: We retrospectively reviewed the CT angiography data sets of 67 patients (29 male and 38 female; age range 17-72 years, mean age 53 years) imaged for the study of the renal arteries, and affected by renovascular hypertension. All patients also had intraarterial digital subtraction angiography (DSA). CT angiography data sets were processed to obtain maximum intensity projection (MIP) and surface-rendered VVE of the aorta. Axial images, MIP, and VVE were evaluated separately and in combination in the detection of accessory renal arteries. Their results in terms of sensitivity and specificity were then compared with DSA. RESULTS: Axial images had a sensitivity of 88% and specificity of 94% for accessory renal artery detection, MIP had a sensitivity of 88% and specificity of 98%, and VVE had a sensitivity of 63% and a specificity of 88% (p < 0.05 vs DSA), but these increased to 88% and 98% respectively if endoscopic views were integrated with the other display techniques. CONCLUSION: VVE based on surface rendering does not add substantial benefits to CTY angiography; by contrast MIP is the most accurate display technique for the detection of accessory renal arteries.

Adolescent↗

Pseudoaneurysm of the abdominal aorta: evaluation with virtual angioscopy of spiral-CT data sets.

We describe a case of graft-related pseudoaneurysm of the abdominal aorta evaluated with spiral CT and DSA. Spiral CT data sets were processed to obtain surface-rendered internal views (virtual angioscopy, VA) of the graft and the pseudoaneurysm, and to demonstrate from inside the lumen the site of dehiscence. A jet flow phenomenon inside the pseudoaneurysm was observed at DSA. Spiral-CT axial images, multiplanar volume reconstructions with maximum intensity projections, and shaded surface display showed the site of rupture. The VA findings were: (a) from inside the graft lumen, the evidence of a communication canal between the graft and the pseudoaneurysm; and (b) from inside the pseudoaneurysm, the presence of a jet flow. The VA findings showed good correlation with those obtained with the other imaging techniques.

Aneurysm, False↗

Intimal-type primary sarcoma of the aorta. Report of a case with evidence of rhabdomyosarcomatous differentiation.

We report an intimal sarcoma presenting as an aortic aneurysm. A 68-year-old man suffered from chest pain and speech disturbance. Computed tomography showed a sacciform aneurysm of the aorta, which was resected, revealing a polypoid tumour measuring 1.5x2x2.5 cm projecting into the lumen. This proved to be a poorly differentiated high-grade sarcoma having morphological, immunophenotypic and ultrastructural features consistent with rhabdomyosarcomatous differentiation. Primary sarcomas of the aorta are extremely rare. Many cases have been diagnosed as "intimal" on the basis of their site of origin, and they are not easy to classify from their histological pattern. Electron microscopy and the use of a more comprehensive panel of immunohistochemical markers should be applied in the histological classification of"intimal" sarcoma.

Aged↗

Suprahepatic inferior vena cava cannulation.

Inadequate venous drainage may represent a major problem in operations on the descending thoracic aorta performed with the aid of cardiopulmonary bypass. We herein describe an alternative technique of venous cannulation, which allows steady performances and high pump flows.

Aorta↗